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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs768525416

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr20:426817-426844 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
del(T)20 / del(T)19 / del(T)18 / d…

del(T)20 / del(T)19 / del(T)18 / del(T)17 / del(T)16 / del(T)15 / del(T)14 / del(T)13 / del(T)12 / del(T)11 / del(T)10 / del(T)9 / del(T)8 / del(T)7 / del(T)6 / del(T)5 / del(T)4 / delTTT / delTT / delT / dupT / dupTT / insTTC(T)29 / insTTC(T)30 / dupTTT / insTTTC(T)29 / insTTTC(T)30 / dup(T)4 / ins(T)4C(T)31 / dup(T)5 / dup(T)6 / dup(T)7 / dup(T)8 / dup(T)9 / dup(T)10 / dup(T)11 / dup(T)12 / dup(T)13 / dup(T)16 / dup(T)17 / dup(T)18 / dup(T)19 / dup(T)21 / dup(T)22 / dup(T)23 / dup(T)24 / dup(T)25 / dup(T)26 / dup(T)27 / dup(T)28 / ins(T)29 / ins(T)33 / ins(T)35

Variation Type
Indel Insertion and Deletion
Frequency
dupT=0.01220 (181/14834, ALFA)
delT=0.42 (15/36, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
RBCK1 : Intron Variant
Publications
0 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 14834 TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.97634 TTTTTTTT=0.00000, TTTTTTTTT=0.00000, TTTTTTTTTT=0.00000, TTTTTTTTTTT=0.00000, TTTTTTTTTTTT=0.00000, TTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTT=0.00290, TTTTTTTTTTTTTTTTTTTTTT=0.00020, TTTTTTTTTTTTTTTTTTTTTTT=0.00667, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.01220, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00121, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00047, TTTTTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00000 0.981673 0.004547 0.01378 32
European Sub 12846 TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.97268 TTTTTTTT=0.00000, TTTTTTTTT=0.00000, TTTTTTTTTT=0.00000, TTTTTTTTTTT=0.00000, TTTTTTTTTTTT=0.00000, TTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTT=0.00335, TTTTTTTTTTTTTTTTTTTTTT=0.00023, TTTTTTTTTTTTTTTTTTTTTTT=0.00771, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.01409, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00140, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00054, TTTTTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00000 0.978764 0.005269 0.015967 32
African Sub 1006 TTTTTTTTTTTTTTTTTTTTTTTTTTTT=1.0000 TTTTTTTT=0.0000, TTTTTTTTT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000 1.0 0.0 0.0 N/A
African Others Sub 36 TTTTTTTTTTTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
African American Sub 970 TTTTTTTTTTTTTTTTTTTTTTTTTTTT=1.000 TTTTTTTT=0.000, TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
Asian Sub 56 TTTTTTTTTTTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
East Asian Sub 46 TTTTTTTTTTTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 10 TTTTTTTTTTTTTTTTTTTTTTTTTTTT=1.0 TTTTTTTT=0.0, TTTTTTTTT=0.0, TTTTTTTTTT=0.0, TTTTTTTTTTT=0.0, TTTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0 1.0 0.0 0.0 N/A
Latin American 1 Sub 98 TTTTTTTTTTTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 446 TTTTTTTTTTTTTTTTTTTTTTTTTTTT=1.000 TTTTTTTT=0.000, TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
South Asian Sub 62 TTTTTTTTTTTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Other Sub 320 TTTTTTTTTTTTTTTTTTTTTTTTTTTT=1.000 TTTTTTTT=0.000, TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
Allele Frequency Aggregator Total Global 14834 (T)28=0.97634 del(T)20=0.00000, del(T)19=0.00000, del(T)18=0.00000, del(T)17=0.00000, del(T)16=0.00000, del(T)15=0.00000, del(T)14=0.00000, del(T)13=0.00000, del(T)12=0.00000, del(T)11=0.00000, del(T)10=0.00000, del(T)9=0.00000, del(T)8=0.00000, del(T)7=0.00290, del(T)6=0.00020, del(T)5=0.00667, del(T)4=0.00000, delTTT=0.00000, delTT=0.00000, delT=0.00000, dupT=0.01220, dupTT=0.00121, dupTTT=0.00000, dup(T)4=0.00000, dup(T)5=0.00000, dup(T)6=0.00000, dup(T)11=0.00047
Allele Frequency Aggregator European Sub 12846 (T)28=0.97268 del(T)20=0.00000, del(T)19=0.00000, del(T)18=0.00000, del(T)17=0.00000, del(T)16=0.00000, del(T)15=0.00000, del(T)14=0.00000, del(T)13=0.00000, del(T)12=0.00000, del(T)11=0.00000, del(T)10=0.00000, del(T)9=0.00000, del(T)8=0.00000, del(T)7=0.00335, del(T)6=0.00023, del(T)5=0.00771, del(T)4=0.00000, delTTT=0.00000, delTT=0.00000, delT=0.00000, dupT=0.01409, dupTT=0.00140, dupTTT=0.00000, dup(T)4=0.00000, dup(T)5=0.00000, dup(T)6=0.00000, dup(T)11=0.00054
Allele Frequency Aggregator African Sub 1006 (T)28=1.0000 del(T)20=0.0000, del(T)19=0.0000, del(T)18=0.0000, del(T)17=0.0000, del(T)16=0.0000, del(T)15=0.0000, del(T)14=0.0000, del(T)13=0.0000, del(T)12=0.0000, del(T)11=0.0000, del(T)10=0.0000, del(T)9=0.0000, del(T)8=0.0000, del(T)7=0.0000, del(T)6=0.0000, del(T)5=0.0000, del(T)4=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, dupTTT=0.0000, dup(T)4=0.0000, dup(T)5=0.0000, dup(T)6=0.0000, dup(T)11=0.0000
Allele Frequency Aggregator Latin American 2 Sub 446 (T)28=1.000 del(T)20=0.000, del(T)19=0.000, del(T)18=0.000, del(T)17=0.000, del(T)16=0.000, del(T)15=0.000, del(T)14=0.000, del(T)13=0.000, del(T)12=0.000, del(T)11=0.000, del(T)10=0.000, del(T)9=0.000, del(T)8=0.000, del(T)7=0.000, del(T)6=0.000, del(T)5=0.000, del(T)4=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)4=0.000, dup(T)5=0.000, dup(T)6=0.000, dup(T)11=0.000
Allele Frequency Aggregator Other Sub 320 (T)28=1.000 del(T)20=0.000, del(T)19=0.000, del(T)18=0.000, del(T)17=0.000, del(T)16=0.000, del(T)15=0.000, del(T)14=0.000, del(T)13=0.000, del(T)12=0.000, del(T)11=0.000, del(T)10=0.000, del(T)9=0.000, del(T)8=0.000, del(T)7=0.000, del(T)6=0.000, del(T)5=0.000, del(T)4=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)4=0.000, dup(T)5=0.000, dup(T)6=0.000, dup(T)11=0.000
Allele Frequency Aggregator Latin American 1 Sub 98 (T)28=1.00 del(T)20=0.00, del(T)19=0.00, del(T)18=0.00, del(T)17=0.00, del(T)16=0.00, del(T)15=0.00, del(T)14=0.00, del(T)13=0.00, del(T)12=0.00, del(T)11=0.00, del(T)10=0.00, del(T)9=0.00, del(T)8=0.00, del(T)7=0.00, del(T)6=0.00, del(T)5=0.00, del(T)4=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)4=0.00, dup(T)5=0.00, dup(T)6=0.00, dup(T)11=0.00
Allele Frequency Aggregator South Asian Sub 62 (T)28=1.00 del(T)20=0.00, del(T)19=0.00, del(T)18=0.00, del(T)17=0.00, del(T)16=0.00, del(T)15=0.00, del(T)14=0.00, del(T)13=0.00, del(T)12=0.00, del(T)11=0.00, del(T)10=0.00, del(T)9=0.00, del(T)8=0.00, del(T)7=0.00, del(T)6=0.00, del(T)5=0.00, del(T)4=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)4=0.00, dup(T)5=0.00, dup(T)6=0.00, dup(T)11=0.00
Allele Frequency Aggregator Asian Sub 56 (T)28=1.00 del(T)20=0.00, del(T)19=0.00, del(T)18=0.00, del(T)17=0.00, del(T)16=0.00, del(T)15=0.00, del(T)14=0.00, del(T)13=0.00, del(T)12=0.00, del(T)11=0.00, del(T)10=0.00, del(T)9=0.00, del(T)8=0.00, del(T)7=0.00, del(T)6=0.00, del(T)5=0.00, del(T)4=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)4=0.00, dup(T)5=0.00, dup(T)6=0.00, dup(T)11=0.00
The Danish reference pan genome Danish Study-wide 36 (T)28=0.58 delT=0.42
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 20 NC_000020.11:g.426825_426844del
GRCh38.p14 chr 20 NC_000020.11:g.426826_426844del
GRCh38.p14 chr 20 NC_000020.11:g.426827_426844del
GRCh38.p14 chr 20 NC_000020.11:g.426828_426844del
GRCh38.p14 chr 20 NC_000020.11:g.426829_426844del
GRCh38.p14 chr 20 NC_000020.11:g.426830_426844del
GRCh38.p14 chr 20 NC_000020.11:g.426831_426844del
GRCh38.p14 chr 20 NC_000020.11:g.426832_426844del
GRCh38.p14 chr 20 NC_000020.11:g.426833_426844del
GRCh38.p14 chr 20 NC_000020.11:g.426834_426844del
GRCh38.p14 chr 20 NC_000020.11:g.426835_426844del
GRCh38.p14 chr 20 NC_000020.11:g.426836_426844del
GRCh38.p14 chr 20 NC_000020.11:g.426837_426844del
GRCh38.p14 chr 20 NC_000020.11:g.426838_426844del
GRCh38.p14 chr 20 NC_000020.11:g.426839_426844del
GRCh38.p14 chr 20 NC_000020.11:g.426840_426844del
GRCh38.p14 chr 20 NC_000020.11:g.426841_426844del
GRCh38.p14 chr 20 NC_000020.11:g.426842_426844del
GRCh38.p14 chr 20 NC_000020.11:g.426843_426844del
GRCh38.p14 chr 20 NC_000020.11:g.426844del
GRCh38.p14 chr 20 NC_000020.11:g.426844dup
GRCh38.p14 chr 20 NC_000020.11:g.426843_426844dup
GRCh38.p14 chr 20 NC_000020.11:g.426817_426844T[30]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]
GRCh38.p14 chr 20 NC_000020.11:g.426817_426844T[30]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]
GRCh38.p14 chr 20 NC_000020.11:g.426842_426844dup
GRCh38.p14 chr 20 NC_000020.11:g.426817_426844T[31]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]
GRCh38.p14 chr 20 NC_000020.11:g.426817_426844T[31]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]
GRCh38.p14 chr 20 NC_000020.11:g.426841_426844dup
GRCh38.p14 chr 20 NC_000020.11:g.426817_426844T[32]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]
GRCh38.p14 chr 20 NC_000020.11:g.426840_426844dup
GRCh38.p14 chr 20 NC_000020.11:g.426839_426844dup
GRCh38.p14 chr 20 NC_000020.11:g.426838_426844dup
GRCh38.p14 chr 20 NC_000020.11:g.426837_426844dup
GRCh38.p14 chr 20 NC_000020.11:g.426836_426844dup
GRCh38.p14 chr 20 NC_000020.11:g.426835_426844dup
GRCh38.p14 chr 20 NC_000020.11:g.426834_426844dup
GRCh38.p14 chr 20 NC_000020.11:g.426833_426844dup
GRCh38.p14 chr 20 NC_000020.11:g.426832_426844dup
GRCh38.p14 chr 20 NC_000020.11:g.426829_426844dup
GRCh38.p14 chr 20 NC_000020.11:g.426828_426844dup
GRCh38.p14 chr 20 NC_000020.11:g.426827_426844dup
GRCh38.p14 chr 20 NC_000020.11:g.426826_426844dup
GRCh38.p14 chr 20 NC_000020.11:g.426824_426844dup
GRCh38.p14 chr 20 NC_000020.11:g.426823_426844dup
GRCh38.p14 chr 20 NC_000020.11:g.426822_426844dup
GRCh38.p14 chr 20 NC_000020.11:g.426821_426844dup
GRCh38.p14 chr 20 NC_000020.11:g.426820_426844dup
GRCh38.p14 chr 20 NC_000020.11:g.426819_426844dup
GRCh38.p14 chr 20 NC_000020.11:g.426818_426844dup
GRCh38.p14 chr 20 NC_000020.11:g.426817_426844dup
GRCh38.p14 chr 20 NC_000020.11:g.426844_426845insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 20 NC_000020.11:g.426844_426845insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 20 NC_000020.11:g.426844_426845insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 20 NC_000020.10:g.407469_407488del
GRCh37.p13 chr 20 NC_000020.10:g.407470_407488del
GRCh37.p13 chr 20 NC_000020.10:g.407471_407488del
GRCh37.p13 chr 20 NC_000020.10:g.407472_407488del
GRCh37.p13 chr 20 NC_000020.10:g.407473_407488del
GRCh37.p13 chr 20 NC_000020.10:g.407474_407488del
GRCh37.p13 chr 20 NC_000020.10:g.407475_407488del
GRCh37.p13 chr 20 NC_000020.10:g.407476_407488del
GRCh37.p13 chr 20 NC_000020.10:g.407477_407488del
GRCh37.p13 chr 20 NC_000020.10:g.407478_407488del
GRCh37.p13 chr 20 NC_000020.10:g.407479_407488del
GRCh37.p13 chr 20 NC_000020.10:g.407480_407488del
GRCh37.p13 chr 20 NC_000020.10:g.407481_407488del
GRCh37.p13 chr 20 NC_000020.10:g.407482_407488del
GRCh37.p13 chr 20 NC_000020.10:g.407483_407488del
GRCh37.p13 chr 20 NC_000020.10:g.407484_407488del
GRCh37.p13 chr 20 NC_000020.10:g.407485_407488del
GRCh37.p13 chr 20 NC_000020.10:g.407486_407488del
GRCh37.p13 chr 20 NC_000020.10:g.407487_407488del
GRCh37.p13 chr 20 NC_000020.10:g.407488del
GRCh37.p13 chr 20 NC_000020.10:g.407488dup
GRCh37.p13 chr 20 NC_000020.10:g.407487_407488dup
GRCh37.p13 chr 20 NC_000020.10:g.407461_407488T[30]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]
GRCh37.p13 chr 20 NC_000020.10:g.407461_407488T[30]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]
GRCh37.p13 chr 20 NC_000020.10:g.407486_407488dup
GRCh37.p13 chr 20 NC_000020.10:g.407461_407488T[31]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]
GRCh37.p13 chr 20 NC_000020.10:g.407461_407488T[31]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]
GRCh37.p13 chr 20 NC_000020.10:g.407485_407488dup
GRCh37.p13 chr 20 NC_000020.10:g.407461_407488T[32]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]
GRCh37.p13 chr 20 NC_000020.10:g.407484_407488dup
GRCh37.p13 chr 20 NC_000020.10:g.407483_407488dup
GRCh37.p13 chr 20 NC_000020.10:g.407482_407488dup
GRCh37.p13 chr 20 NC_000020.10:g.407481_407488dup
GRCh37.p13 chr 20 NC_000020.10:g.407480_407488dup
GRCh37.p13 chr 20 NC_000020.10:g.407479_407488dup
GRCh37.p13 chr 20 NC_000020.10:g.407478_407488dup
GRCh37.p13 chr 20 NC_000020.10:g.407477_407488dup
GRCh37.p13 chr 20 NC_000020.10:g.407476_407488dup
GRCh37.p13 chr 20 NC_000020.10:g.407473_407488dup
GRCh37.p13 chr 20 NC_000020.10:g.407472_407488dup
GRCh37.p13 chr 20 NC_000020.10:g.407471_407488dup
GRCh37.p13 chr 20 NC_000020.10:g.407470_407488dup
GRCh37.p13 chr 20 NC_000020.10:g.407468_407488dup
GRCh37.p13 chr 20 NC_000020.10:g.407467_407488dup
GRCh37.p13 chr 20 NC_000020.10:g.407466_407488dup
GRCh37.p13 chr 20 NC_000020.10:g.407465_407488dup
GRCh37.p13 chr 20 NC_000020.10:g.407464_407488dup
GRCh37.p13 chr 20 NC_000020.10:g.407463_407488dup
GRCh37.p13 chr 20 NC_000020.10:g.407462_407488dup
GRCh37.p13 chr 20 NC_000020.10:g.407461_407488dup
GRCh37.p13 chr 20 NC_000020.10:g.407488_407489insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 20 NC_000020.10:g.407488_407489insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 20 NC_000020.10:g.407488_407489insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
RBCK1 RefSeqGene (LRG_728) NG_033233.1:g.23761_23780del
RBCK1 RefSeqGene (LRG_728) NG_033233.1:g.23762_23780del
RBCK1 RefSeqGene (LRG_728) NG_033233.1:g.23763_23780del
RBCK1 RefSeqGene (LRG_728) NG_033233.1:g.23764_23780del
RBCK1 RefSeqGene (LRG_728) NG_033233.1:g.23765_23780del
RBCK1 RefSeqGene (LRG_728) NG_033233.1:g.23766_23780del
RBCK1 RefSeqGene (LRG_728) NG_033233.1:g.23767_23780del
RBCK1 RefSeqGene (LRG_728) NG_033233.1:g.23768_23780del
RBCK1 RefSeqGene (LRG_728) NG_033233.1:g.23769_23780del
RBCK1 RefSeqGene (LRG_728) NG_033233.1:g.23770_23780del
RBCK1 RefSeqGene (LRG_728) NG_033233.1:g.23771_23780del
RBCK1 RefSeqGene (LRG_728) NG_033233.1:g.23772_23780del
RBCK1 RefSeqGene (LRG_728) NG_033233.1:g.23773_23780del
RBCK1 RefSeqGene (LRG_728) NG_033233.1:g.23774_23780del
RBCK1 RefSeqGene (LRG_728) NG_033233.1:g.23775_23780del
RBCK1 RefSeqGene (LRG_728) NG_033233.1:g.23776_23780del
RBCK1 RefSeqGene (LRG_728) NG_033233.1:g.23777_23780del
RBCK1 RefSeqGene (LRG_728) NG_033233.1:g.23778_23780del
RBCK1 RefSeqGene (LRG_728) NG_033233.1:g.23779_23780del
RBCK1 RefSeqGene (LRG_728) NG_033233.1:g.23780del
RBCK1 RefSeqGene (LRG_728) NG_033233.1:g.23780dup
RBCK1 RefSeqGene (LRG_728) NG_033233.1:g.23779_23780dup
RBCK1 RefSeqGene (LRG_728) NG_033233.1:g.23753_23780T[30]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]
RBCK1 RefSeqGene (LRG_728) NG_033233.1:g.23753_23780T[30]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]
RBCK1 RefSeqGene (LRG_728) NG_033233.1:g.23778_23780dup
RBCK1 RefSeqGene (LRG_728) NG_033233.1:g.23753_23780T[31]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]
RBCK1 RefSeqGene (LRG_728) NG_033233.1:g.23753_23780T[31]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]
RBCK1 RefSeqGene (LRG_728) NG_033233.1:g.23777_23780dup
RBCK1 RefSeqGene (LRG_728) NG_033233.1:g.23753_23780T[32]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]
RBCK1 RefSeqGene (LRG_728) NG_033233.1:g.23776_23780dup
RBCK1 RefSeqGene (LRG_728) NG_033233.1:g.23775_23780dup
RBCK1 RefSeqGene (LRG_728) NG_033233.1:g.23774_23780dup
RBCK1 RefSeqGene (LRG_728) NG_033233.1:g.23773_23780dup
RBCK1 RefSeqGene (LRG_728) NG_033233.1:g.23772_23780dup
RBCK1 RefSeqGene (LRG_728) NG_033233.1:g.23771_23780dup
RBCK1 RefSeqGene (LRG_728) NG_033233.1:g.23770_23780dup
RBCK1 RefSeqGene (LRG_728) NG_033233.1:g.23769_23780dup
RBCK1 RefSeqGene (LRG_728) NG_033233.1:g.23768_23780dup
RBCK1 RefSeqGene (LRG_728) NG_033233.1:g.23765_23780dup
RBCK1 RefSeqGene (LRG_728) NG_033233.1:g.23764_23780dup
RBCK1 RefSeqGene (LRG_728) NG_033233.1:g.23763_23780dup
RBCK1 RefSeqGene (LRG_728) NG_033233.1:g.23762_23780dup
RBCK1 RefSeqGene (LRG_728) NG_033233.1:g.23760_23780dup
RBCK1 RefSeqGene (LRG_728) NG_033233.1:g.23759_23780dup
RBCK1 RefSeqGene (LRG_728) NG_033233.1:g.23758_23780dup
RBCK1 RefSeqGene (LRG_728) NG_033233.1:g.23757_23780dup
RBCK1 RefSeqGene (LRG_728) NG_033233.1:g.23756_23780dup
RBCK1 RefSeqGene (LRG_728) NG_033233.1:g.23755_23780dup
RBCK1 RefSeqGene (LRG_728) NG_033233.1:g.23754_23780dup
RBCK1 RefSeqGene (LRG_728) NG_033233.1:g.23753_23780dup
RBCK1 RefSeqGene (LRG_728) NG_033233.1:g.23780_23781insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
RBCK1 RefSeqGene (LRG_728) NG_033233.1:g.23780_23781insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
RBCK1 RefSeqGene (LRG_728) NG_033233.1:g.23780_23781insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene: RBCK1, RANBP2-type and C3HC4-type zinc finger containing 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
RBCK1 transcript variant 3 NM_001323956.2:c.520-488_…

NM_001323956.2:c.520-488_520-469del

N/A Intron Variant
RBCK1 transcript variant 4 NM_001323958.2:c.520-488_…

NM_001323958.2:c.520-488_520-469del

N/A Intron Variant
RBCK1 transcript variant 1 NM_006462.6:c.904-488_904…

NM_006462.6:c.904-488_904-469del

N/A Intron Variant
RBCK1 transcript variant 2 NM_031229.4:c.1030-488_10…

NM_031229.4:c.1030-488_1030-469del

N/A Intron Variant
RBCK1 transcript variant 5 NM_001323960.2:c. N/A Genic Downstream Transcript Variant
RBCK1 transcript variant 6 NR_136659.2:n. N/A Intron Variant
RBCK1 transcript variant X3 XM_005260645.3:c.1081-488…

XM_005260645.3:c.1081-488_1081-469del

N/A Intron Variant
RBCK1 transcript variant X1 XM_011529137.3:c.1204-488…

XM_011529137.3:c.1204-488_1204-469del

N/A Intron Variant
RBCK1 transcript variant X2 XM_011529138.2:c.1153-488…

XM_011529138.2:c.1153-488_1153-469del

N/A Intron Variant
RBCK1 transcript variant X3 XM_011529139.4:c.1204-488…

XM_011529139.4:c.1204-488_1204-469del

N/A Intron Variant
RBCK1 transcript variant X4 XM_011529140.3:c. N/A Genic Downstream Transcript Variant
RBCK1 transcript variant X5 XM_047439833.1:c. N/A Genic Downstream Transcript Variant
RBCK1 transcript variant X6 XM_047439834.1:c. N/A Genic Downstream Transcript Variant
RBCK1 transcript variant X7 XM_047439835.1:c. N/A Genic Downstream Transcript Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement (T)28= del(T)20 del(T)19 del(T)18 del(T)17 del(T)16 del(T)15 del(T)14 del(T)13 del(T)12 del(T)11 del(T)10 del(T)9 del(T)8 del(T)7 del(T)6 del(T)5 del(T)4 delTTT delTT delT dupT dupTT insTTC(T)29 insTTC(T)30 dupTTT insTTTC(T)29 insTTTC(T)30 dup(T)4 ins(T)4C(T)31 dup(T)5 dup(T)6 dup(T)7 dup(T)8 dup(T)9 dup(T)10 dup(T)11 dup(T)12 dup(T)13 dup(T)16 dup(T)17 dup(T)18 dup(T)19 dup(T)21 dup(T)22 dup(T)23 dup(T)24 dup(T)25 dup(T)26 dup(T)27 dup(T)28 ins(T)29 ins(T)33 ins(T)35
GRCh38.p14 chr 20 NC_000020.11:g.426817_426844= NC_000020.11:g.426825_426844del NC_000020.11:g.426826_426844del NC_000020.11:g.426827_426844del NC_000020.11:g.426828_426844del NC_000020.11:g.426829_426844del NC_000020.11:g.426830_426844del NC_000020.11:g.426831_426844del NC_000020.11:g.426832_426844del NC_000020.11:g.426833_426844del NC_000020.11:g.426834_426844del NC_000020.11:g.426835_426844del NC_000020.11:g.426836_426844del NC_000020.11:g.426837_426844del NC_000020.11:g.426838_426844del NC_000020.11:g.426839_426844del NC_000020.11:g.426840_426844del NC_000020.11:g.426841_426844del NC_000020.11:g.426842_426844del NC_000020.11:g.426843_426844del NC_000020.11:g.426844del NC_000020.11:g.426844dup NC_000020.11:g.426843_426844dup NC_000020.11:g.426817_426844T[30]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1] NC_000020.11:g.426817_426844T[30]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1] NC_000020.11:g.426842_426844dup NC_000020.11:g.426817_426844T[31]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1] NC_000020.11:g.426817_426844T[31]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1] NC_000020.11:g.426841_426844dup NC_000020.11:g.426817_426844T[32]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1] NC_000020.11:g.426840_426844dup NC_000020.11:g.426839_426844dup NC_000020.11:g.426838_426844dup NC_000020.11:g.426837_426844dup NC_000020.11:g.426836_426844dup NC_000020.11:g.426835_426844dup NC_000020.11:g.426834_426844dup NC_000020.11:g.426833_426844dup NC_000020.11:g.426832_426844dup NC_000020.11:g.426829_426844dup NC_000020.11:g.426828_426844dup NC_000020.11:g.426827_426844dup NC_000020.11:g.426826_426844dup NC_000020.11:g.426824_426844dup NC_000020.11:g.426823_426844dup NC_000020.11:g.426822_426844dup NC_000020.11:g.426821_426844dup NC_000020.11:g.426820_426844dup NC_000020.11:g.426819_426844dup NC_000020.11:g.426818_426844dup NC_000020.11:g.426817_426844dup NC_000020.11:g.426844_426845insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NC_000020.11:g.426844_426845insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NC_000020.11:g.426844_426845insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 20 NC_000020.10:g.407461_407488= NC_000020.10:g.407469_407488del NC_000020.10:g.407470_407488del NC_000020.10:g.407471_407488del NC_000020.10:g.407472_407488del NC_000020.10:g.407473_407488del NC_000020.10:g.407474_407488del NC_000020.10:g.407475_407488del NC_000020.10:g.407476_407488del NC_000020.10:g.407477_407488del NC_000020.10:g.407478_407488del NC_000020.10:g.407479_407488del NC_000020.10:g.407480_407488del NC_000020.10:g.407481_407488del NC_000020.10:g.407482_407488del NC_000020.10:g.407483_407488del NC_000020.10:g.407484_407488del NC_000020.10:g.407485_407488del NC_000020.10:g.407486_407488del NC_000020.10:g.407487_407488del NC_000020.10:g.407488del NC_000020.10:g.407488dup NC_000020.10:g.407487_407488dup NC_000020.10:g.407461_407488T[30]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1] NC_000020.10:g.407461_407488T[30]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1] NC_000020.10:g.407486_407488dup NC_000020.10:g.407461_407488T[31]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1] NC_000020.10:g.407461_407488T[31]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1] NC_000020.10:g.407485_407488dup NC_000020.10:g.407461_407488T[32]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1] NC_000020.10:g.407484_407488dup NC_000020.10:g.407483_407488dup NC_000020.10:g.407482_407488dup NC_000020.10:g.407481_407488dup NC_000020.10:g.407480_407488dup NC_000020.10:g.407479_407488dup NC_000020.10:g.407478_407488dup NC_000020.10:g.407477_407488dup NC_000020.10:g.407476_407488dup NC_000020.10:g.407473_407488dup NC_000020.10:g.407472_407488dup NC_000020.10:g.407471_407488dup NC_000020.10:g.407470_407488dup NC_000020.10:g.407468_407488dup NC_000020.10:g.407467_407488dup NC_000020.10:g.407466_407488dup NC_000020.10:g.407465_407488dup NC_000020.10:g.407464_407488dup NC_000020.10:g.407463_407488dup NC_000020.10:g.407462_407488dup NC_000020.10:g.407461_407488dup NC_000020.10:g.407488_407489insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NC_000020.10:g.407488_407489insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NC_000020.10:g.407488_407489insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
RBCK1 RefSeqGene (LRG_728) NG_033233.1:g.23753_23780= NG_033233.1:g.23761_23780del NG_033233.1:g.23762_23780del NG_033233.1:g.23763_23780del NG_033233.1:g.23764_23780del NG_033233.1:g.23765_23780del NG_033233.1:g.23766_23780del NG_033233.1:g.23767_23780del NG_033233.1:g.23768_23780del NG_033233.1:g.23769_23780del NG_033233.1:g.23770_23780del NG_033233.1:g.23771_23780del NG_033233.1:g.23772_23780del NG_033233.1:g.23773_23780del NG_033233.1:g.23774_23780del NG_033233.1:g.23775_23780del NG_033233.1:g.23776_23780del NG_033233.1:g.23777_23780del NG_033233.1:g.23778_23780del NG_033233.1:g.23779_23780del NG_033233.1:g.23780del NG_033233.1:g.23780dup NG_033233.1:g.23779_23780dup NG_033233.1:g.23753_23780T[30]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1] NG_033233.1:g.23753_23780T[30]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1] NG_033233.1:g.23778_23780dup NG_033233.1:g.23753_23780T[31]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1] NG_033233.1:g.23753_23780T[31]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1] NG_033233.1:g.23777_23780dup NG_033233.1:g.23753_23780T[32]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1] NG_033233.1:g.23776_23780dup NG_033233.1:g.23775_23780dup NG_033233.1:g.23774_23780dup NG_033233.1:g.23773_23780dup NG_033233.1:g.23772_23780dup NG_033233.1:g.23771_23780dup NG_033233.1:g.23770_23780dup NG_033233.1:g.23769_23780dup NG_033233.1:g.23768_23780dup NG_033233.1:g.23765_23780dup NG_033233.1:g.23764_23780dup NG_033233.1:g.23763_23780dup NG_033233.1:g.23762_23780dup NG_033233.1:g.23760_23780dup NG_033233.1:g.23759_23780dup NG_033233.1:g.23758_23780dup NG_033233.1:g.23757_23780dup NG_033233.1:g.23756_23780dup NG_033233.1:g.23755_23780dup NG_033233.1:g.23754_23780dup NG_033233.1:g.23753_23780dup NG_033233.1:g.23780_23781insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NG_033233.1:g.23780_23781insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NG_033233.1:g.23780_23781insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
RBCK1 transcript variant 3 NM_001323956.2:c.520-496= NM_001323956.2:c.520-488_520-469del NM_001323956.2:c.520-487_520-469del NM_001323956.2:c.520-486_520-469del NM_001323956.2:c.520-485_520-469del NM_001323956.2:c.520-484_520-469del NM_001323956.2:c.520-483_520-469del NM_001323956.2:c.520-482_520-469del NM_001323956.2:c.520-481_520-469del NM_001323956.2:c.520-480_520-469del NM_001323956.2:c.520-479_520-469del NM_001323956.2:c.520-478_520-469del NM_001323956.2:c.520-477_520-469del NM_001323956.2:c.520-476_520-469del NM_001323956.2:c.520-475_520-469del NM_001323956.2:c.520-474_520-469del NM_001323956.2:c.520-473_520-469del NM_001323956.2:c.520-472_520-469del NM_001323956.2:c.520-471_520-469del NM_001323956.2:c.520-470_520-469del NM_001323956.2:c.520-469del NM_001323956.2:c.520-469dup NM_001323956.2:c.520-470_520-469dup NM_001323956.2:c.520-469_520-468insTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001323956.2:c.520-469_520-468insTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001323956.2:c.520-471_520-469dup NM_001323956.2:c.520-469_520-468insTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001323956.2:c.520-469_520-468insTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001323956.2:c.520-472_520-469dup NM_001323956.2:c.520-469_520-468insTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001323956.2:c.520-473_520-469dup NM_001323956.2:c.520-474_520-469dup NM_001323956.2:c.520-475_520-469dup NM_001323956.2:c.520-476_520-469dup NM_001323956.2:c.520-477_520-469dup NM_001323956.2:c.520-478_520-469dup NM_001323956.2:c.520-479_520-469dup NM_001323956.2:c.520-480_520-469dup NM_001323956.2:c.520-481_520-469dup NM_001323956.2:c.520-484_520-469dup NM_001323956.2:c.520-485_520-469dup NM_001323956.2:c.520-486_520-469dup NM_001323956.2:c.520-487_520-469dup NM_001323956.2:c.520-489_520-469dup NM_001323956.2:c.520-490_520-469dup NM_001323956.2:c.520-491_520-469dup NM_001323956.2:c.520-492_520-469dup NM_001323956.2:c.520-493_520-469dup NM_001323956.2:c.520-494_520-469dup NM_001323956.2:c.520-495_520-469dup NM_001323956.2:c.520-496_520-469dup NM_001323956.2:c.520-469_520-468insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001323956.2:c.520-469_520-468insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001323956.2:c.520-469_520-468insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
RBCK1 transcript variant 4 NM_001323958.2:c.520-496= NM_001323958.2:c.520-488_520-469del NM_001323958.2:c.520-487_520-469del NM_001323958.2:c.520-486_520-469del NM_001323958.2:c.520-485_520-469del NM_001323958.2:c.520-484_520-469del NM_001323958.2:c.520-483_520-469del NM_001323958.2:c.520-482_520-469del NM_001323958.2:c.520-481_520-469del NM_001323958.2:c.520-480_520-469del NM_001323958.2:c.520-479_520-469del NM_001323958.2:c.520-478_520-469del NM_001323958.2:c.520-477_520-469del NM_001323958.2:c.520-476_520-469del NM_001323958.2:c.520-475_520-469del NM_001323958.2:c.520-474_520-469del NM_001323958.2:c.520-473_520-469del NM_001323958.2:c.520-472_520-469del NM_001323958.2:c.520-471_520-469del NM_001323958.2:c.520-470_520-469del NM_001323958.2:c.520-469del NM_001323958.2:c.520-469dup NM_001323958.2:c.520-470_520-469dup NM_001323958.2:c.520-469_520-468insTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001323958.2:c.520-469_520-468insTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001323958.2:c.520-471_520-469dup NM_001323958.2:c.520-469_520-468insTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001323958.2:c.520-469_520-468insTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001323958.2:c.520-472_520-469dup NM_001323958.2:c.520-469_520-468insTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001323958.2:c.520-473_520-469dup NM_001323958.2:c.520-474_520-469dup NM_001323958.2:c.520-475_520-469dup NM_001323958.2:c.520-476_520-469dup NM_001323958.2:c.520-477_520-469dup NM_001323958.2:c.520-478_520-469dup NM_001323958.2:c.520-479_520-469dup NM_001323958.2:c.520-480_520-469dup NM_001323958.2:c.520-481_520-469dup NM_001323958.2:c.520-484_520-469dup NM_001323958.2:c.520-485_520-469dup NM_001323958.2:c.520-486_520-469dup NM_001323958.2:c.520-487_520-469dup NM_001323958.2:c.520-489_520-469dup NM_001323958.2:c.520-490_520-469dup NM_001323958.2:c.520-491_520-469dup NM_001323958.2:c.520-492_520-469dup NM_001323958.2:c.520-493_520-469dup NM_001323958.2:c.520-494_520-469dup NM_001323958.2:c.520-495_520-469dup NM_001323958.2:c.520-496_520-469dup NM_001323958.2:c.520-469_520-468insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001323958.2:c.520-469_520-468insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001323958.2:c.520-469_520-468insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
RBCK1 transcript variant 1 NM_006462.4:c.904-496= NM_006462.4:c.904-488_904-469del NM_006462.4:c.904-487_904-469del NM_006462.4:c.904-486_904-469del NM_006462.4:c.904-485_904-469del NM_006462.4:c.904-484_904-469del NM_006462.4:c.904-483_904-469del NM_006462.4:c.904-482_904-469del NM_006462.4:c.904-481_904-469del NM_006462.4:c.904-480_904-469del NM_006462.4:c.904-479_904-469del NM_006462.4:c.904-478_904-469del NM_006462.4:c.904-477_904-469del NM_006462.4:c.904-476_904-469del NM_006462.4:c.904-475_904-469del NM_006462.4:c.904-474_904-469del NM_006462.4:c.904-473_904-469del NM_006462.4:c.904-472_904-469del NM_006462.4:c.904-471_904-469del NM_006462.4:c.904-470_904-469del NM_006462.4:c.904-469del NM_006462.4:c.904-469dup NM_006462.4:c.904-470_904-469dup NM_006462.4:c.904-469_904-468insTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_006462.4:c.904-469_904-468insTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_006462.4:c.904-471_904-469dup NM_006462.4:c.904-469_904-468insTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_006462.4:c.904-469_904-468insTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_006462.4:c.904-472_904-469dup NM_006462.4:c.904-469_904-468insTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_006462.4:c.904-473_904-469dup NM_006462.4:c.904-474_904-469dup NM_006462.4:c.904-475_904-469dup NM_006462.4:c.904-476_904-469dup NM_006462.4:c.904-477_904-469dup NM_006462.4:c.904-478_904-469dup NM_006462.4:c.904-479_904-469dup NM_006462.4:c.904-480_904-469dup NM_006462.4:c.904-481_904-469dup NM_006462.4:c.904-484_904-469dup NM_006462.4:c.904-485_904-469dup NM_006462.4:c.904-486_904-469dup NM_006462.4:c.904-487_904-469dup NM_006462.4:c.904-489_904-469dup NM_006462.4:c.904-490_904-469dup NM_006462.4:c.904-491_904-469dup NM_006462.4:c.904-492_904-469dup NM_006462.4:c.904-493_904-469dup NM_006462.4:c.904-494_904-469dup NM_006462.4:c.904-495_904-469dup NM_006462.4:c.904-496_904-469dup NM_006462.4:c.904-469_904-468insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_006462.4:c.904-469_904-468insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_006462.4:c.904-469_904-468insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
RBCK1 transcript variant 1 NM_006462.6:c.904-496= NM_006462.6:c.904-488_904-469del NM_006462.6:c.904-487_904-469del NM_006462.6:c.904-486_904-469del NM_006462.6:c.904-485_904-469del NM_006462.6:c.904-484_904-469del NM_006462.6:c.904-483_904-469del NM_006462.6:c.904-482_904-469del NM_006462.6:c.904-481_904-469del NM_006462.6:c.904-480_904-469del NM_006462.6:c.904-479_904-469del NM_006462.6:c.904-478_904-469del NM_006462.6:c.904-477_904-469del NM_006462.6:c.904-476_904-469del NM_006462.6:c.904-475_904-469del NM_006462.6:c.904-474_904-469del NM_006462.6:c.904-473_904-469del NM_006462.6:c.904-472_904-469del NM_006462.6:c.904-471_904-469del NM_006462.6:c.904-470_904-469del NM_006462.6:c.904-469del NM_006462.6:c.904-469dup NM_006462.6:c.904-470_904-469dup NM_006462.6:c.904-469_904-468insTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_006462.6:c.904-469_904-468insTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_006462.6:c.904-471_904-469dup NM_006462.6:c.904-469_904-468insTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_006462.6:c.904-469_904-468insTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_006462.6:c.904-472_904-469dup NM_006462.6:c.904-469_904-468insTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_006462.6:c.904-473_904-469dup NM_006462.6:c.904-474_904-469dup NM_006462.6:c.904-475_904-469dup NM_006462.6:c.904-476_904-469dup NM_006462.6:c.904-477_904-469dup NM_006462.6:c.904-478_904-469dup NM_006462.6:c.904-479_904-469dup NM_006462.6:c.904-480_904-469dup NM_006462.6:c.904-481_904-469dup NM_006462.6:c.904-484_904-469dup NM_006462.6:c.904-485_904-469dup NM_006462.6:c.904-486_904-469dup NM_006462.6:c.904-487_904-469dup NM_006462.6:c.904-489_904-469dup NM_006462.6:c.904-490_904-469dup NM_006462.6:c.904-491_904-469dup NM_006462.6:c.904-492_904-469dup NM_006462.6:c.904-493_904-469dup NM_006462.6:c.904-494_904-469dup NM_006462.6:c.904-495_904-469dup NM_006462.6:c.904-496_904-469dup NM_006462.6:c.904-469_904-468insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_006462.6:c.904-469_904-468insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_006462.6:c.904-469_904-468insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
RBCK1 transcript variant 2 NM_031229.2:c.1030-496= NM_031229.2:c.1030-488_1030-469del NM_031229.2:c.1030-487_1030-469del NM_031229.2:c.1030-486_1030-469del NM_031229.2:c.1030-485_1030-469del NM_031229.2:c.1030-484_1030-469del NM_031229.2:c.1030-483_1030-469del NM_031229.2:c.1030-482_1030-469del NM_031229.2:c.1030-481_1030-469del NM_031229.2:c.1030-480_1030-469del NM_031229.2:c.1030-479_1030-469del NM_031229.2:c.1030-478_1030-469del NM_031229.2:c.1030-477_1030-469del NM_031229.2:c.1030-476_1030-469del NM_031229.2:c.1030-475_1030-469del NM_031229.2:c.1030-474_1030-469del NM_031229.2:c.1030-473_1030-469del NM_031229.2:c.1030-472_1030-469del NM_031229.2:c.1030-471_1030-469del NM_031229.2:c.1030-470_1030-469del NM_031229.2:c.1030-469del NM_031229.2:c.1030-469dup NM_031229.2:c.1030-470_1030-469dup NM_031229.2:c.1030-469_1030-468insTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_031229.2:c.1030-469_1030-468insTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_031229.2:c.1030-471_1030-469dup NM_031229.2:c.1030-469_1030-468insTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_031229.2:c.1030-469_1030-468insTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_031229.2:c.1030-472_1030-469dup NM_031229.2:c.1030-469_1030-468insTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_031229.2:c.1030-473_1030-469dup NM_031229.2:c.1030-474_1030-469dup NM_031229.2:c.1030-475_1030-469dup NM_031229.2:c.1030-476_1030-469dup NM_031229.2:c.1030-477_1030-469dup NM_031229.2:c.1030-478_1030-469dup NM_031229.2:c.1030-479_1030-469dup NM_031229.2:c.1030-480_1030-469dup NM_031229.2:c.1030-481_1030-469dup NM_031229.2:c.1030-484_1030-469dup NM_031229.2:c.1030-485_1030-469dup NM_031229.2:c.1030-486_1030-469dup NM_031229.2:c.1030-487_1030-469dup NM_031229.2:c.1030-489_1030-469dup NM_031229.2:c.1030-490_1030-469dup NM_031229.2:c.1030-491_1030-469dup NM_031229.2:c.1030-492_1030-469dup NM_031229.2:c.1030-493_1030-469dup NM_031229.2:c.1030-494_1030-469dup NM_031229.2:c.1030-495_1030-469dup NM_031229.2:c.1030-496_1030-469dup NM_031229.2:c.1030-469_1030-468insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_031229.2:c.1030-469_1030-468insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_031229.2:c.1030-469_1030-468insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
RBCK1 transcript variant 2 NM_031229.4:c.1030-496= NM_031229.4:c.1030-488_1030-469del NM_031229.4:c.1030-487_1030-469del NM_031229.4:c.1030-486_1030-469del NM_031229.4:c.1030-485_1030-469del NM_031229.4:c.1030-484_1030-469del NM_031229.4:c.1030-483_1030-469del NM_031229.4:c.1030-482_1030-469del NM_031229.4:c.1030-481_1030-469del NM_031229.4:c.1030-480_1030-469del NM_031229.4:c.1030-479_1030-469del NM_031229.4:c.1030-478_1030-469del NM_031229.4:c.1030-477_1030-469del NM_031229.4:c.1030-476_1030-469del NM_031229.4:c.1030-475_1030-469del NM_031229.4:c.1030-474_1030-469del NM_031229.4:c.1030-473_1030-469del NM_031229.4:c.1030-472_1030-469del NM_031229.4:c.1030-471_1030-469del NM_031229.4:c.1030-470_1030-469del NM_031229.4:c.1030-469del NM_031229.4:c.1030-469dup NM_031229.4:c.1030-470_1030-469dup NM_031229.4:c.1030-469_1030-468insTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_031229.4:c.1030-469_1030-468insTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_031229.4:c.1030-471_1030-469dup NM_031229.4:c.1030-469_1030-468insTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_031229.4:c.1030-469_1030-468insTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_031229.4:c.1030-472_1030-469dup NM_031229.4:c.1030-469_1030-468insTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_031229.4:c.1030-473_1030-469dup NM_031229.4:c.1030-474_1030-469dup NM_031229.4:c.1030-475_1030-469dup NM_031229.4:c.1030-476_1030-469dup NM_031229.4:c.1030-477_1030-469dup NM_031229.4:c.1030-478_1030-469dup NM_031229.4:c.1030-479_1030-469dup NM_031229.4:c.1030-480_1030-469dup NM_031229.4:c.1030-481_1030-469dup NM_031229.4:c.1030-484_1030-469dup NM_031229.4:c.1030-485_1030-469dup NM_031229.4:c.1030-486_1030-469dup NM_031229.4:c.1030-487_1030-469dup NM_031229.4:c.1030-489_1030-469dup NM_031229.4:c.1030-490_1030-469dup NM_031229.4:c.1030-491_1030-469dup NM_031229.4:c.1030-492_1030-469dup NM_031229.4:c.1030-493_1030-469dup NM_031229.4:c.1030-494_1030-469dup NM_031229.4:c.1030-495_1030-469dup NM_031229.4:c.1030-496_1030-469dup NM_031229.4:c.1030-469_1030-468insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_031229.4:c.1030-469_1030-468insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_031229.4:c.1030-469_1030-468insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
RBCK1 transcript variant X3 XM_005260645.1:c.1081-496= XM_005260645.1:c.1081-488_1081-469del XM_005260645.1:c.1081-487_1081-469del XM_005260645.1:c.1081-486_1081-469del XM_005260645.1:c.1081-485_1081-469del XM_005260645.1:c.1081-484_1081-469del XM_005260645.1:c.1081-483_1081-469del XM_005260645.1:c.1081-482_1081-469del XM_005260645.1:c.1081-481_1081-469del XM_005260645.1:c.1081-480_1081-469del XM_005260645.1:c.1081-479_1081-469del XM_005260645.1:c.1081-478_1081-469del XM_005260645.1:c.1081-477_1081-469del XM_005260645.1:c.1081-476_1081-469del XM_005260645.1:c.1081-475_1081-469del XM_005260645.1:c.1081-474_1081-469del XM_005260645.1:c.1081-473_1081-469del XM_005260645.1:c.1081-472_1081-469del XM_005260645.1:c.1081-471_1081-469del XM_005260645.1:c.1081-470_1081-469del XM_005260645.1:c.1081-469del XM_005260645.1:c.1081-469dup XM_005260645.1:c.1081-470_1081-469dup XM_005260645.1:c.1081-469_1081-468insTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_005260645.1:c.1081-469_1081-468insTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_005260645.1:c.1081-471_1081-469dup XM_005260645.1:c.1081-469_1081-468insTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_005260645.1:c.1081-469_1081-468insTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_005260645.1:c.1081-472_1081-469dup XM_005260645.1:c.1081-469_1081-468insTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_005260645.1:c.1081-473_1081-469dup XM_005260645.1:c.1081-474_1081-469dup XM_005260645.1:c.1081-475_1081-469dup XM_005260645.1:c.1081-476_1081-469dup XM_005260645.1:c.1081-477_1081-469dup XM_005260645.1:c.1081-478_1081-469dup XM_005260645.1:c.1081-479_1081-469dup XM_005260645.1:c.1081-480_1081-469dup XM_005260645.1:c.1081-481_1081-469dup XM_005260645.1:c.1081-484_1081-469dup XM_005260645.1:c.1081-485_1081-469dup XM_005260645.1:c.1081-486_1081-469dup XM_005260645.1:c.1081-487_1081-469dup XM_005260645.1:c.1081-489_1081-469dup XM_005260645.1:c.1081-490_1081-469dup XM_005260645.1:c.1081-491_1081-469dup XM_005260645.1:c.1081-492_1081-469dup XM_005260645.1:c.1081-493_1081-469dup XM_005260645.1:c.1081-494_1081-469dup XM_005260645.1:c.1081-495_1081-469dup XM_005260645.1:c.1081-496_1081-469dup XM_005260645.1:c.1081-469_1081-468insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_005260645.1:c.1081-469_1081-468insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_005260645.1:c.1081-469_1081-468insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
RBCK1 transcript variant X3 XM_005260645.3:c.1081-496= XM_005260645.3:c.1081-488_1081-469del XM_005260645.3:c.1081-487_1081-469del XM_005260645.3:c.1081-486_1081-469del XM_005260645.3:c.1081-485_1081-469del XM_005260645.3:c.1081-484_1081-469del XM_005260645.3:c.1081-483_1081-469del XM_005260645.3:c.1081-482_1081-469del XM_005260645.3:c.1081-481_1081-469del XM_005260645.3:c.1081-480_1081-469del XM_005260645.3:c.1081-479_1081-469del XM_005260645.3:c.1081-478_1081-469del XM_005260645.3:c.1081-477_1081-469del XM_005260645.3:c.1081-476_1081-469del XM_005260645.3:c.1081-475_1081-469del XM_005260645.3:c.1081-474_1081-469del XM_005260645.3:c.1081-473_1081-469del XM_005260645.3:c.1081-472_1081-469del XM_005260645.3:c.1081-471_1081-469del XM_005260645.3:c.1081-470_1081-469del XM_005260645.3:c.1081-469del XM_005260645.3:c.1081-469dup XM_005260645.3:c.1081-470_1081-469dup XM_005260645.3:c.1081-469_1081-468insTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_005260645.3:c.1081-469_1081-468insTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_005260645.3:c.1081-471_1081-469dup XM_005260645.3:c.1081-469_1081-468insTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_005260645.3:c.1081-469_1081-468insTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_005260645.3:c.1081-472_1081-469dup XM_005260645.3:c.1081-469_1081-468insTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_005260645.3:c.1081-473_1081-469dup XM_005260645.3:c.1081-474_1081-469dup XM_005260645.3:c.1081-475_1081-469dup XM_005260645.3:c.1081-476_1081-469dup XM_005260645.3:c.1081-477_1081-469dup XM_005260645.3:c.1081-478_1081-469dup XM_005260645.3:c.1081-479_1081-469dup XM_005260645.3:c.1081-480_1081-469dup XM_005260645.3:c.1081-481_1081-469dup XM_005260645.3:c.1081-484_1081-469dup XM_005260645.3:c.1081-485_1081-469dup XM_005260645.3:c.1081-486_1081-469dup XM_005260645.3:c.1081-487_1081-469dup XM_005260645.3:c.1081-489_1081-469dup XM_005260645.3:c.1081-490_1081-469dup XM_005260645.3:c.1081-491_1081-469dup XM_005260645.3:c.1081-492_1081-469dup XM_005260645.3:c.1081-493_1081-469dup XM_005260645.3:c.1081-494_1081-469dup XM_005260645.3:c.1081-495_1081-469dup XM_005260645.3:c.1081-496_1081-469dup XM_005260645.3:c.1081-469_1081-468insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_005260645.3:c.1081-469_1081-468insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_005260645.3:c.1081-469_1081-468insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
RBCK1 transcript variant X2 XM_005260646.1:c.1081-496= XM_005260646.1:c.1081-488_1081-469del XM_005260646.1:c.1081-487_1081-469del XM_005260646.1:c.1081-486_1081-469del XM_005260646.1:c.1081-485_1081-469del XM_005260646.1:c.1081-484_1081-469del XM_005260646.1:c.1081-483_1081-469del XM_005260646.1:c.1081-482_1081-469del XM_005260646.1:c.1081-481_1081-469del XM_005260646.1:c.1081-480_1081-469del XM_005260646.1:c.1081-479_1081-469del XM_005260646.1:c.1081-478_1081-469del XM_005260646.1:c.1081-477_1081-469del XM_005260646.1:c.1081-476_1081-469del XM_005260646.1:c.1081-475_1081-469del XM_005260646.1:c.1081-474_1081-469del XM_005260646.1:c.1081-473_1081-469del XM_005260646.1:c.1081-472_1081-469del XM_005260646.1:c.1081-471_1081-469del XM_005260646.1:c.1081-470_1081-469del XM_005260646.1:c.1081-469del XM_005260646.1:c.1081-469dup XM_005260646.1:c.1081-470_1081-469dup XM_005260646.1:c.1081-469_1081-468insTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_005260646.1:c.1081-469_1081-468insTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_005260646.1:c.1081-471_1081-469dup XM_005260646.1:c.1081-469_1081-468insTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_005260646.1:c.1081-469_1081-468insTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_005260646.1:c.1081-472_1081-469dup XM_005260646.1:c.1081-469_1081-468insTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_005260646.1:c.1081-473_1081-469dup XM_005260646.1:c.1081-474_1081-469dup XM_005260646.1:c.1081-475_1081-469dup XM_005260646.1:c.1081-476_1081-469dup XM_005260646.1:c.1081-477_1081-469dup XM_005260646.1:c.1081-478_1081-469dup XM_005260646.1:c.1081-479_1081-469dup XM_005260646.1:c.1081-480_1081-469dup XM_005260646.1:c.1081-481_1081-469dup XM_005260646.1:c.1081-484_1081-469dup XM_005260646.1:c.1081-485_1081-469dup XM_005260646.1:c.1081-486_1081-469dup XM_005260646.1:c.1081-487_1081-469dup XM_005260646.1:c.1081-489_1081-469dup XM_005260646.1:c.1081-490_1081-469dup XM_005260646.1:c.1081-491_1081-469dup XM_005260646.1:c.1081-492_1081-469dup XM_005260646.1:c.1081-493_1081-469dup XM_005260646.1:c.1081-494_1081-469dup XM_005260646.1:c.1081-495_1081-469dup XM_005260646.1:c.1081-496_1081-469dup XM_005260646.1:c.1081-469_1081-468insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_005260646.1:c.1081-469_1081-468insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_005260646.1:c.1081-469_1081-468insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
RBCK1 transcript variant X3 XM_005260647.1:c.1081-496= XM_005260647.1:c.1081-488_1081-469del XM_005260647.1:c.1081-487_1081-469del XM_005260647.1:c.1081-486_1081-469del XM_005260647.1:c.1081-485_1081-469del XM_005260647.1:c.1081-484_1081-469del XM_005260647.1:c.1081-483_1081-469del XM_005260647.1:c.1081-482_1081-469del XM_005260647.1:c.1081-481_1081-469del XM_005260647.1:c.1081-480_1081-469del XM_005260647.1:c.1081-479_1081-469del XM_005260647.1:c.1081-478_1081-469del XM_005260647.1:c.1081-477_1081-469del XM_005260647.1:c.1081-476_1081-469del XM_005260647.1:c.1081-475_1081-469del XM_005260647.1:c.1081-474_1081-469del XM_005260647.1:c.1081-473_1081-469del XM_005260647.1:c.1081-472_1081-469del XM_005260647.1:c.1081-471_1081-469del XM_005260647.1:c.1081-470_1081-469del XM_005260647.1:c.1081-469del XM_005260647.1:c.1081-469dup XM_005260647.1:c.1081-470_1081-469dup XM_005260647.1:c.1081-469_1081-468insTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_005260647.1:c.1081-469_1081-468insTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_005260647.1:c.1081-471_1081-469dup XM_005260647.1:c.1081-469_1081-468insTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_005260647.1:c.1081-469_1081-468insTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_005260647.1:c.1081-472_1081-469dup XM_005260647.1:c.1081-469_1081-468insTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_005260647.1:c.1081-473_1081-469dup XM_005260647.1:c.1081-474_1081-469dup XM_005260647.1:c.1081-475_1081-469dup XM_005260647.1:c.1081-476_1081-469dup XM_005260647.1:c.1081-477_1081-469dup XM_005260647.1:c.1081-478_1081-469dup XM_005260647.1:c.1081-479_1081-469dup XM_005260647.1:c.1081-480_1081-469dup XM_005260647.1:c.1081-481_1081-469dup XM_005260647.1:c.1081-484_1081-469dup XM_005260647.1:c.1081-485_1081-469dup XM_005260647.1:c.1081-486_1081-469dup XM_005260647.1:c.1081-487_1081-469dup XM_005260647.1:c.1081-489_1081-469dup XM_005260647.1:c.1081-490_1081-469dup XM_005260647.1:c.1081-491_1081-469dup XM_005260647.1:c.1081-492_1081-469dup XM_005260647.1:c.1081-493_1081-469dup XM_005260647.1:c.1081-494_1081-469dup XM_005260647.1:c.1081-495_1081-469dup XM_005260647.1:c.1081-496_1081-469dup XM_005260647.1:c.1081-469_1081-468insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_005260647.1:c.1081-469_1081-468insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_005260647.1:c.1081-469_1081-468insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
RBCK1 transcript variant X4 XM_005260648.1:c.520-496= XM_005260648.1:c.520-488_520-469del XM_005260648.1:c.520-487_520-469del XM_005260648.1:c.520-486_520-469del XM_005260648.1:c.520-485_520-469del XM_005260648.1:c.520-484_520-469del XM_005260648.1:c.520-483_520-469del XM_005260648.1:c.520-482_520-469del XM_005260648.1:c.520-481_520-469del XM_005260648.1:c.520-480_520-469del XM_005260648.1:c.520-479_520-469del XM_005260648.1:c.520-478_520-469del XM_005260648.1:c.520-477_520-469del XM_005260648.1:c.520-476_520-469del XM_005260648.1:c.520-475_520-469del XM_005260648.1:c.520-474_520-469del XM_005260648.1:c.520-473_520-469del XM_005260648.1:c.520-472_520-469del XM_005260648.1:c.520-471_520-469del XM_005260648.1:c.520-470_520-469del XM_005260648.1:c.520-469del XM_005260648.1:c.520-469dup XM_005260648.1:c.520-470_520-469dup XM_005260648.1:c.520-469_520-468insTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_005260648.1:c.520-469_520-468insTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_005260648.1:c.520-471_520-469dup XM_005260648.1:c.520-469_520-468insTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_005260648.1:c.520-469_520-468insTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_005260648.1:c.520-472_520-469dup XM_005260648.1:c.520-469_520-468insTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_005260648.1:c.520-473_520-469dup XM_005260648.1:c.520-474_520-469dup XM_005260648.1:c.520-475_520-469dup XM_005260648.1:c.520-476_520-469dup XM_005260648.1:c.520-477_520-469dup XM_005260648.1:c.520-478_520-469dup XM_005260648.1:c.520-479_520-469dup XM_005260648.1:c.520-480_520-469dup XM_005260648.1:c.520-481_520-469dup XM_005260648.1:c.520-484_520-469dup XM_005260648.1:c.520-485_520-469dup XM_005260648.1:c.520-486_520-469dup XM_005260648.1:c.520-487_520-469dup XM_005260648.1:c.520-489_520-469dup XM_005260648.1:c.520-490_520-469dup XM_005260648.1:c.520-491_520-469dup XM_005260648.1:c.520-492_520-469dup XM_005260648.1:c.520-493_520-469dup XM_005260648.1:c.520-494_520-469dup XM_005260648.1:c.520-495_520-469dup XM_005260648.1:c.520-496_520-469dup XM_005260648.1:c.520-469_520-468insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_005260648.1:c.520-469_520-468insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_005260648.1:c.520-469_520-468insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
RBCK1 transcript variant X1 XM_011529137.3:c.1204-496= XM_011529137.3:c.1204-488_1204-469del XM_011529137.3:c.1204-487_1204-469del XM_011529137.3:c.1204-486_1204-469del XM_011529137.3:c.1204-485_1204-469del XM_011529137.3:c.1204-484_1204-469del XM_011529137.3:c.1204-483_1204-469del XM_011529137.3:c.1204-482_1204-469del XM_011529137.3:c.1204-481_1204-469del XM_011529137.3:c.1204-480_1204-469del XM_011529137.3:c.1204-479_1204-469del XM_011529137.3:c.1204-478_1204-469del XM_011529137.3:c.1204-477_1204-469del XM_011529137.3:c.1204-476_1204-469del XM_011529137.3:c.1204-475_1204-469del XM_011529137.3:c.1204-474_1204-469del XM_011529137.3:c.1204-473_1204-469del XM_011529137.3:c.1204-472_1204-469del XM_011529137.3:c.1204-471_1204-469del XM_011529137.3:c.1204-470_1204-469del XM_011529137.3:c.1204-469del XM_011529137.3:c.1204-469dup XM_011529137.3:c.1204-470_1204-469dup XM_011529137.3:c.1204-469_1204-468insTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_011529137.3:c.1204-469_1204-468insTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_011529137.3:c.1204-471_1204-469dup XM_011529137.3:c.1204-469_1204-468insTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_011529137.3:c.1204-469_1204-468insTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_011529137.3:c.1204-472_1204-469dup XM_011529137.3:c.1204-469_1204-468insTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_011529137.3:c.1204-473_1204-469dup XM_011529137.3:c.1204-474_1204-469dup XM_011529137.3:c.1204-475_1204-469dup XM_011529137.3:c.1204-476_1204-469dup XM_011529137.3:c.1204-477_1204-469dup XM_011529137.3:c.1204-478_1204-469dup XM_011529137.3:c.1204-479_1204-469dup XM_011529137.3:c.1204-480_1204-469dup XM_011529137.3:c.1204-481_1204-469dup XM_011529137.3:c.1204-484_1204-469dup XM_011529137.3:c.1204-485_1204-469dup XM_011529137.3:c.1204-486_1204-469dup XM_011529137.3:c.1204-487_1204-469dup XM_011529137.3:c.1204-489_1204-469dup XM_011529137.3:c.1204-490_1204-469dup XM_011529137.3:c.1204-491_1204-469dup XM_011529137.3:c.1204-492_1204-469dup XM_011529137.3:c.1204-493_1204-469dup XM_011529137.3:c.1204-494_1204-469dup XM_011529137.3:c.1204-495_1204-469dup XM_011529137.3:c.1204-496_1204-469dup XM_011529137.3:c.1204-469_1204-468insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_011529137.3:c.1204-469_1204-468insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_011529137.3:c.1204-469_1204-468insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
RBCK1 transcript variant X2 XM_011529138.2:c.1153-496= XM_011529138.2:c.1153-488_1153-469del XM_011529138.2:c.1153-487_1153-469del XM_011529138.2:c.1153-486_1153-469del XM_011529138.2:c.1153-485_1153-469del XM_011529138.2:c.1153-484_1153-469del XM_011529138.2:c.1153-483_1153-469del XM_011529138.2:c.1153-482_1153-469del XM_011529138.2:c.1153-481_1153-469del XM_011529138.2:c.1153-480_1153-469del XM_011529138.2:c.1153-479_1153-469del XM_011529138.2:c.1153-478_1153-469del XM_011529138.2:c.1153-477_1153-469del XM_011529138.2:c.1153-476_1153-469del XM_011529138.2:c.1153-475_1153-469del XM_011529138.2:c.1153-474_1153-469del XM_011529138.2:c.1153-473_1153-469del XM_011529138.2:c.1153-472_1153-469del XM_011529138.2:c.1153-471_1153-469del XM_011529138.2:c.1153-470_1153-469del XM_011529138.2:c.1153-469del XM_011529138.2:c.1153-469dup XM_011529138.2:c.1153-470_1153-469dup XM_011529138.2:c.1153-469_1153-468insTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_011529138.2:c.1153-469_1153-468insTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_011529138.2:c.1153-471_1153-469dup XM_011529138.2:c.1153-469_1153-468insTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_011529138.2:c.1153-469_1153-468insTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_011529138.2:c.1153-472_1153-469dup XM_011529138.2:c.1153-469_1153-468insTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_011529138.2:c.1153-473_1153-469dup XM_011529138.2:c.1153-474_1153-469dup XM_011529138.2:c.1153-475_1153-469dup XM_011529138.2:c.1153-476_1153-469dup XM_011529138.2:c.1153-477_1153-469dup XM_011529138.2:c.1153-478_1153-469dup XM_011529138.2:c.1153-479_1153-469dup XM_011529138.2:c.1153-480_1153-469dup XM_011529138.2:c.1153-481_1153-469dup XM_011529138.2:c.1153-484_1153-469dup XM_011529138.2:c.1153-485_1153-469dup XM_011529138.2:c.1153-486_1153-469dup XM_011529138.2:c.1153-487_1153-469dup XM_011529138.2:c.1153-489_1153-469dup XM_011529138.2:c.1153-490_1153-469dup XM_011529138.2:c.1153-491_1153-469dup XM_011529138.2:c.1153-492_1153-469dup XM_011529138.2:c.1153-493_1153-469dup XM_011529138.2:c.1153-494_1153-469dup XM_011529138.2:c.1153-495_1153-469dup XM_011529138.2:c.1153-496_1153-469dup XM_011529138.2:c.1153-469_1153-468insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_011529138.2:c.1153-469_1153-468insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_011529138.2:c.1153-469_1153-468insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
RBCK1 transcript variant X3 XM_011529139.4:c.1204-496= XM_011529139.4:c.1204-488_1204-469del XM_011529139.4:c.1204-487_1204-469del XM_011529139.4:c.1204-486_1204-469del XM_011529139.4:c.1204-485_1204-469del XM_011529139.4:c.1204-484_1204-469del XM_011529139.4:c.1204-483_1204-469del XM_011529139.4:c.1204-482_1204-469del XM_011529139.4:c.1204-481_1204-469del XM_011529139.4:c.1204-480_1204-469del XM_011529139.4:c.1204-479_1204-469del XM_011529139.4:c.1204-478_1204-469del XM_011529139.4:c.1204-477_1204-469del XM_011529139.4:c.1204-476_1204-469del XM_011529139.4:c.1204-475_1204-469del XM_011529139.4:c.1204-474_1204-469del XM_011529139.4:c.1204-473_1204-469del XM_011529139.4:c.1204-472_1204-469del XM_011529139.4:c.1204-471_1204-469del XM_011529139.4:c.1204-470_1204-469del XM_011529139.4:c.1204-469del XM_011529139.4:c.1204-469dup XM_011529139.4:c.1204-470_1204-469dup XM_011529139.4:c.1204-469_1204-468insTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_011529139.4:c.1204-469_1204-468insTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_011529139.4:c.1204-471_1204-469dup XM_011529139.4:c.1204-469_1204-468insTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_011529139.4:c.1204-469_1204-468insTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_011529139.4:c.1204-472_1204-469dup XM_011529139.4:c.1204-469_1204-468insTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_011529139.4:c.1204-473_1204-469dup XM_011529139.4:c.1204-474_1204-469dup XM_011529139.4:c.1204-475_1204-469dup XM_011529139.4:c.1204-476_1204-469dup XM_011529139.4:c.1204-477_1204-469dup XM_011529139.4:c.1204-478_1204-469dup XM_011529139.4:c.1204-479_1204-469dup XM_011529139.4:c.1204-480_1204-469dup XM_011529139.4:c.1204-481_1204-469dup XM_011529139.4:c.1204-484_1204-469dup XM_011529139.4:c.1204-485_1204-469dup XM_011529139.4:c.1204-486_1204-469dup XM_011529139.4:c.1204-487_1204-469dup XM_011529139.4:c.1204-489_1204-469dup XM_011529139.4:c.1204-490_1204-469dup XM_011529139.4:c.1204-491_1204-469dup XM_011529139.4:c.1204-492_1204-469dup XM_011529139.4:c.1204-493_1204-469dup XM_011529139.4:c.1204-494_1204-469dup XM_011529139.4:c.1204-495_1204-469dup XM_011529139.4:c.1204-496_1204-469dup XM_011529139.4:c.1204-469_1204-468insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_011529139.4:c.1204-469_1204-468insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_011529139.4:c.1204-469_1204-468insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

77 SubSNP, 65 Frequency submissions
No Submitter Submission ID Date (Build)
1 EVA_GENOME_DK ss1575660828 Apr 01, 2015 (144)
2 HAMMER_LAB ss1809385434 Sep 08, 2015 (146)
3 SWEGEN ss3017748790 Nov 08, 2017 (151)
4 GNOMAD ss4333863053 Apr 26, 2021 (155)
5 GNOMAD ss4333863054 Apr 26, 2021 (155)
6 GNOMAD ss4333863055 Apr 26, 2021 (155)
7 GNOMAD ss4333863056 Apr 26, 2021 (155)
8 GNOMAD ss4333863057 Apr 26, 2021 (155)
9 GNOMAD ss4333863058 Apr 26, 2021 (155)
10 GNOMAD ss4333863059 Apr 26, 2021 (155)
11 GNOMAD ss4333863060 Apr 26, 2021 (155)
12 GNOMAD ss4333863061 Apr 26, 2021 (155)
13 GNOMAD ss4333863062 Apr 26, 2021 (155)
14 GNOMAD ss4333863063 Apr 26, 2021 (155)
15 GNOMAD ss4333863064 Apr 26, 2021 (155)
16 GNOMAD ss4333863065 Apr 26, 2021 (155)
17 GNOMAD ss4333863066 Apr 26, 2021 (155)
18 GNOMAD ss4333863067 Apr 26, 2021 (155)
19 GNOMAD ss4333863068 Apr 26, 2021 (155)
20 GNOMAD ss4333863069 Apr 26, 2021 (155)
21 GNOMAD ss4333863070 Apr 26, 2021 (155)
22 GNOMAD ss4333863071 Apr 26, 2021 (155)
23 GNOMAD ss4333863072 Apr 26, 2021 (155)
24 GNOMAD ss4333863073 Apr 26, 2021 (155)
25 GNOMAD ss4333863074 Apr 26, 2021 (155)
26 GNOMAD ss4333863075 Apr 26, 2021 (155)
27 GNOMAD ss4333863076 Apr 26, 2021 (155)
28 GNOMAD ss4333863077 Apr 26, 2021 (155)
29 GNOMAD ss4333863078 Apr 26, 2021 (155)
30 GNOMAD ss4333863079 Apr 26, 2021 (155)
31 GNOMAD ss4333863080 Apr 26, 2021 (155)
32 GNOMAD ss4333863081 Apr 26, 2021 (155)
33 GNOMAD ss4333863082 Apr 26, 2021 (155)
34 GNOMAD ss4333863083 Apr 26, 2021 (155)
35 GNOMAD ss4333863084 Apr 26, 2021 (155)
36 GNOMAD ss4333863085 Apr 26, 2021 (155)
37 GNOMAD ss4333863087 Apr 26, 2021 (155)
38 GNOMAD ss4333863088 Apr 26, 2021 (155)
39 GNOMAD ss4333863089 Apr 26, 2021 (155)
40 GNOMAD ss4333863090 Apr 26, 2021 (155)
41 GNOMAD ss4333863091 Apr 26, 2021 (155)
42 GNOMAD ss4333863092 Apr 26, 2021 (155)
43 GNOMAD ss4333863093 Apr 26, 2021 (155)
44 GNOMAD ss4333863094 Apr 26, 2021 (155)
45 GNOMAD ss4333863095 Apr 26, 2021 (155)
46 GNOMAD ss4333863096 Apr 26, 2021 (155)
47 GNOMAD ss4333863097 Apr 26, 2021 (155)
48 GNOMAD ss4333863098 Apr 26, 2021 (155)
49 GNOMAD ss4333863099 Apr 26, 2021 (155)
50 GNOMAD ss4333863100 Apr 26, 2021 (155)
51 GNOMAD ss4333863101 Apr 26, 2021 (155)
52 GNOMAD ss4333863102 Apr 26, 2021 (155)
53 TOPMED ss5079818718 Apr 26, 2021 (155)
54 TOPMED ss5079818719 Apr 26, 2021 (155)
55 TOMMO_GENOMICS ss5228518405 Apr 26, 2021 (155)
56 TOMMO_GENOMICS ss5228518406 Apr 26, 2021 (155)
57 TOMMO_GENOMICS ss5228518407 Apr 26, 2021 (155)
58 TOMMO_GENOMICS ss5228518408 Apr 26, 2021 (155)
59 TOMMO_GENOMICS ss5228518409 Apr 26, 2021 (155)
60 TOMMO_GENOMICS ss5228518410 Apr 26, 2021 (155)
61 1000G_HIGH_COVERAGE ss5307830496 Oct 13, 2022 (156)
62 1000G_HIGH_COVERAGE ss5307830497 Oct 13, 2022 (156)
63 1000G_HIGH_COVERAGE ss5307830498 Oct 13, 2022 (156)
64 1000G_HIGH_COVERAGE ss5307830499 Oct 13, 2022 (156)
65 1000G_HIGH_COVERAGE ss5307830500 Oct 13, 2022 (156)
66 HUGCELL_USP ss5500255007 Oct 13, 2022 (156)
67 HUGCELL_USP ss5500255008 Oct 13, 2022 (156)
68 HUGCELL_USP ss5500255009 Oct 13, 2022 (156)
69 HUGCELL_USP ss5500255010 Oct 13, 2022 (156)
70 HUGCELL_USP ss5500255011 Oct 13, 2022 (156)
71 HUGCELL_USP ss5500255012 Oct 13, 2022 (156)
72 TOMMO_GENOMICS ss5787413992 Oct 13, 2022 (156)
73 TOMMO_GENOMICS ss5787413993 Oct 13, 2022 (156)
74 TOMMO_GENOMICS ss5787413994 Oct 13, 2022 (156)
75 TOMMO_GENOMICS ss5787413995 Oct 13, 2022 (156)
76 TOMMO_GENOMICS ss5787413996 Oct 13, 2022 (156)
77 TOMMO_GENOMICS ss5787413997 Oct 13, 2022 (156)
78 The Danish reference pan genome NC_000020.10 - 407461 Apr 27, 2020 (154)
79 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 544452913 (NC_000020.11:426816::T 1957/87574)
Row 544452914 (NC_000020.11:426816::TT 766/87576)
Row 544452915 (NC_000020.11:426816::TTT 29/87600)...

- Apr 26, 2021 (155)
80 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 544452913 (NC_000020.11:426816::T 1957/87574)
Row 544452914 (NC_000020.11:426816::TT 766/87576)
Row 544452915 (NC_000020.11:426816::TTT 29/87600)...

- Apr 26, 2021 (155)
81 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 544452913 (NC_000020.11:426816::T 1957/87574)
Row 544452914 (NC_000020.11:426816::TT 766/87576)
Row 544452915 (NC_000020.11:426816::TTT 29/87600)...

- Apr 26, 2021 (155)
82 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 544452913 (NC_000020.11:426816::T 1957/87574)
Row 544452914 (NC_000020.11:426816::TT 766/87576)
Row 544452915 (NC_000020.11:426816::TTT 29/87600)...

- Apr 26, 2021 (155)
83 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 544452913 (NC_000020.11:426816::T 1957/87574)
Row 544452914 (NC_000020.11:426816::TT 766/87576)
Row 544452915 (NC_000020.11:426816::TTT 29/87600)...

- Apr 26, 2021 (155)
84 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 544452913 (NC_000020.11:426816::T 1957/87574)
Row 544452914 (NC_000020.11:426816::TT 766/87576)
Row 544452915 (NC_000020.11:426816::TTT 29/87600)...

- Apr 26, 2021 (155)
85 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 544452913 (NC_000020.11:426816::T 1957/87574)
Row 544452914 (NC_000020.11:426816::TT 766/87576)
Row 544452915 (NC_000020.11:426816::TTT 29/87600)...

- Apr 26, 2021 (155)
86 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 544452913 (NC_000020.11:426816::T 1957/87574)
Row 544452914 (NC_000020.11:426816::TT 766/87576)
Row 544452915 (NC_000020.11:426816::TTT 29/87600)...

- Apr 26, 2021 (155)
87 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 544452913 (NC_000020.11:426816::T 1957/87574)
Row 544452914 (NC_000020.11:426816::TT 766/87576)
Row 544452915 (NC_000020.11:426816::TTT 29/87600)...

- Apr 26, 2021 (155)
88 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 544452913 (NC_000020.11:426816::T 1957/87574)
Row 544452914 (NC_000020.11:426816::TT 766/87576)
Row 544452915 (NC_000020.11:426816::TTT 29/87600)...

- Apr 26, 2021 (155)
89 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 544452913 (NC_000020.11:426816::T 1957/87574)
Row 544452914 (NC_000020.11:426816::TT 766/87576)
Row 544452915 (NC_000020.11:426816::TTT 29/87600)...

- Apr 26, 2021 (155)
90 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 544452913 (NC_000020.11:426816::T 1957/87574)
Row 544452914 (NC_000020.11:426816::TT 766/87576)
Row 544452915 (NC_000020.11:426816::TTT 29/87600)...

- Apr 26, 2021 (155)
91 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 544452913 (NC_000020.11:426816::T 1957/87574)
Row 544452914 (NC_000020.11:426816::TT 766/87576)
Row 544452915 (NC_000020.11:426816::TTT 29/87600)...

- Apr 26, 2021 (155)
92 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 544452913 (NC_000020.11:426816::T 1957/87574)
Row 544452914 (NC_000020.11:426816::TT 766/87576)
Row 544452915 (NC_000020.11:426816::TTT 29/87600)...

- Apr 26, 2021 (155)
93 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 544452913 (NC_000020.11:426816::T 1957/87574)
Row 544452914 (NC_000020.11:426816::TT 766/87576)
Row 544452915 (NC_000020.11:426816::TTT 29/87600)...

- Apr 26, 2021 (155)
94 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 544452913 (NC_000020.11:426816::T 1957/87574)
Row 544452914 (NC_000020.11:426816::TT 766/87576)
Row 544452915 (NC_000020.11:426816::TTT 29/87600)...

- Apr 26, 2021 (155)
95 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 544452913 (NC_000020.11:426816::T 1957/87574)
Row 544452914 (NC_000020.11:426816::TT 766/87576)
Row 544452915 (NC_000020.11:426816::TTT 29/87600)...

- Apr 26, 2021 (155)
96 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 544452913 (NC_000020.11:426816::T 1957/87574)
Row 544452914 (NC_000020.11:426816::TT 766/87576)
Row 544452915 (NC_000020.11:426816::TTT 29/87600)...

- Apr 26, 2021 (155)
97 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 544452913 (NC_000020.11:426816::T 1957/87574)
Row 544452914 (NC_000020.11:426816::TT 766/87576)
Row 544452915 (NC_000020.11:426816::TTT 29/87600)...

- Apr 26, 2021 (155)
98 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 544452913 (NC_000020.11:426816::T 1957/87574)
Row 544452914 (NC_000020.11:426816::TT 766/87576)
Row 544452915 (NC_000020.11:426816::TTT 29/87600)...

- Apr 26, 2021 (155)
99 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 544452913 (NC_000020.11:426816::T 1957/87574)
Row 544452914 (NC_000020.11:426816::TT 766/87576)
Row 544452915 (NC_000020.11:426816::TTT 29/87600)...

- Apr 26, 2021 (155)
100 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 544452913 (NC_000020.11:426816::T 1957/87574)
Row 544452914 (NC_000020.11:426816::TT 766/87576)
Row 544452915 (NC_000020.11:426816::TTT 29/87600)...

- Apr 26, 2021 (155)
101 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 544452913 (NC_000020.11:426816::T 1957/87574)
Row 544452914 (NC_000020.11:426816::TT 766/87576)
Row 544452915 (NC_000020.11:426816::TTT 29/87600)...

- Apr 26, 2021 (155)
102 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 544452913 (NC_000020.11:426816::T 1957/87574)
Row 544452914 (NC_000020.11:426816::TT 766/87576)
Row 544452915 (NC_000020.11:426816::TTT 29/87600)...

- Apr 26, 2021 (155)
103 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 544452913 (NC_000020.11:426816::T 1957/87574)
Row 544452914 (NC_000020.11:426816::TT 766/87576)
Row 544452915 (NC_000020.11:426816::TTT 29/87600)...

- Apr 26, 2021 (155)
104 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 544452913 (NC_000020.11:426816::T 1957/87574)
Row 544452914 (NC_000020.11:426816::TT 766/87576)
Row 544452915 (NC_000020.11:426816::TTT 29/87600)...

- Apr 26, 2021 (155)
105 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 544452913 (NC_000020.11:426816::T 1957/87574)
Row 544452914 (NC_000020.11:426816::TT 766/87576)
Row 544452915 (NC_000020.11:426816::TTT 29/87600)...

- Apr 26, 2021 (155)
106 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 544452913 (NC_000020.11:426816::T 1957/87574)
Row 544452914 (NC_000020.11:426816::TT 766/87576)
Row 544452915 (NC_000020.11:426816::TTT 29/87600)...

- Apr 26, 2021 (155)
107 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 544452913 (NC_000020.11:426816::T 1957/87574)
Row 544452914 (NC_000020.11:426816::TT 766/87576)
Row 544452915 (NC_000020.11:426816::TTT 29/87600)...

- Apr 26, 2021 (155)
108 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 544452913 (NC_000020.11:426816::T 1957/87574)
Row 544452914 (NC_000020.11:426816::TT 766/87576)
Row 544452915 (NC_000020.11:426816::TTT 29/87600)...

- Apr 26, 2021 (155)
109 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 544452913 (NC_000020.11:426816::T 1957/87574)
Row 544452914 (NC_000020.11:426816::TT 766/87576)
Row 544452915 (NC_000020.11:426816::TTT 29/87600)...

- Apr 26, 2021 (155)
110 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 544452913 (NC_000020.11:426816::T 1957/87574)
Row 544452914 (NC_000020.11:426816::TT 766/87576)
Row 544452915 (NC_000020.11:426816::TTT 29/87600)...

- Apr 26, 2021 (155)
111 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 544452913 (NC_000020.11:426816::T 1957/87574)
Row 544452914 (NC_000020.11:426816::TT 766/87576)
Row 544452915 (NC_000020.11:426816::TTT 29/87600)...

- Apr 26, 2021 (155)
112 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 544452913 (NC_000020.11:426816::T 1957/87574)
Row 544452914 (NC_000020.11:426816::TT 766/87576)
Row 544452915 (NC_000020.11:426816::TTT 29/87600)...

- Apr 26, 2021 (155)
113 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 544452913 (NC_000020.11:426816::T 1957/87574)
Row 544452914 (NC_000020.11:426816::TT 766/87576)
Row 544452915 (NC_000020.11:426816::TTT 29/87600)...

- Apr 26, 2021 (155)
114 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 544452913 (NC_000020.11:426816::T 1957/87574)
Row 544452914 (NC_000020.11:426816::TT 766/87576)
Row 544452915 (NC_000020.11:426816::TTT 29/87600)...

- Apr 26, 2021 (155)
115 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 544452913 (NC_000020.11:426816::T 1957/87574)
Row 544452914 (NC_000020.11:426816::TT 766/87576)
Row 544452915 (NC_000020.11:426816::TTT 29/87600)...

- Apr 26, 2021 (155)
116 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 544452913 (NC_000020.11:426816::T 1957/87574)
Row 544452914 (NC_000020.11:426816::TT 766/87576)
Row 544452915 (NC_000020.11:426816::TTT 29/87600)...

- Apr 26, 2021 (155)
117 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 544452913 (NC_000020.11:426816::T 1957/87574)
Row 544452914 (NC_000020.11:426816::TT 766/87576)
Row 544452915 (NC_000020.11:426816::TTT 29/87600)...

- Apr 26, 2021 (155)
118 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 544452913 (NC_000020.11:426816::T 1957/87574)
Row 544452914 (NC_000020.11:426816::TT 766/87576)
Row 544452915 (NC_000020.11:426816::TTT 29/87600)...

- Apr 26, 2021 (155)
119 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 544452913 (NC_000020.11:426816::T 1957/87574)
Row 544452914 (NC_000020.11:426816::TT 766/87576)
Row 544452915 (NC_000020.11:426816::TTT 29/87600)...

- Apr 26, 2021 (155)
120 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 544452913 (NC_000020.11:426816::T 1957/87574)
Row 544452914 (NC_000020.11:426816::TT 766/87576)
Row 544452915 (NC_000020.11:426816::TTT 29/87600)...

- Apr 26, 2021 (155)
121 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 544452913 (NC_000020.11:426816::T 1957/87574)
Row 544452914 (NC_000020.11:426816::TT 766/87576)
Row 544452915 (NC_000020.11:426816::TTT 29/87600)...

- Apr 26, 2021 (155)
122 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 544452913 (NC_000020.11:426816::T 1957/87574)
Row 544452914 (NC_000020.11:426816::TT 766/87576)
Row 544452915 (NC_000020.11:426816::TTT 29/87600)...

- Apr 26, 2021 (155)
123 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 544452913 (NC_000020.11:426816::T 1957/87574)
Row 544452914 (NC_000020.11:426816::TT 766/87576)
Row 544452915 (NC_000020.11:426816::TTT 29/87600)...

- Apr 26, 2021 (155)
124 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 544452913 (NC_000020.11:426816::T 1957/87574)
Row 544452914 (NC_000020.11:426816::TT 766/87576)
Row 544452915 (NC_000020.11:426816::TTT 29/87600)...

- Apr 26, 2021 (155)
125 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 544452913 (NC_000020.11:426816::T 1957/87574)
Row 544452914 (NC_000020.11:426816::TT 766/87576)
Row 544452915 (NC_000020.11:426816::TTT 29/87600)...

- Apr 26, 2021 (155)
126 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 544452913 (NC_000020.11:426816::T 1957/87574)
Row 544452914 (NC_000020.11:426816::TT 766/87576)
Row 544452915 (NC_000020.11:426816::TTT 29/87600)...

- Apr 26, 2021 (155)
127 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 544452913 (NC_000020.11:426816::T 1957/87574)
Row 544452914 (NC_000020.11:426816::TT 766/87576)
Row 544452915 (NC_000020.11:426816::TTT 29/87600)...

- Apr 26, 2021 (155)
128 8.3KJPN

Submission ignored due to conflicting rows:
Row 86487712 (NC_000020.10:407460:TTTTTTTT: 470/16436)
Row 86487713 (NC_000020.10:407460:TTTTT: 589/16436)
Row 86487714 (NC_000020.10:407460:TTTTTT: 6/16436)...

- Apr 26, 2021 (155)
129 8.3KJPN

Submission ignored due to conflicting rows:
Row 86487712 (NC_000020.10:407460:TTTTTTTT: 470/16436)
Row 86487713 (NC_000020.10:407460:TTTTT: 589/16436)
Row 86487714 (NC_000020.10:407460:TTTTTT: 6/16436)...

- Apr 26, 2021 (155)
130 8.3KJPN

Submission ignored due to conflicting rows:
Row 86487712 (NC_000020.10:407460:TTTTTTTT: 470/16436)
Row 86487713 (NC_000020.10:407460:TTTTT: 589/16436)
Row 86487714 (NC_000020.10:407460:TTTTTT: 6/16436)...

- Apr 26, 2021 (155)
131 8.3KJPN

Submission ignored due to conflicting rows:
Row 86487712 (NC_000020.10:407460:TTTTTTTT: 470/16436)
Row 86487713 (NC_000020.10:407460:TTTTT: 589/16436)
Row 86487714 (NC_000020.10:407460:TTTTTT: 6/16436)...

- Apr 26, 2021 (155)
132 8.3KJPN

Submission ignored due to conflicting rows:
Row 86487712 (NC_000020.10:407460:TTTTTTTT: 470/16436)
Row 86487713 (NC_000020.10:407460:TTTTT: 589/16436)
Row 86487714 (NC_000020.10:407460:TTTTTT: 6/16436)...

- Apr 26, 2021 (155)
133 8.3KJPN

Submission ignored due to conflicting rows:
Row 86487712 (NC_000020.10:407460:TTTTTTTT: 470/16436)
Row 86487713 (NC_000020.10:407460:TTTTT: 589/16436)
Row 86487714 (NC_000020.10:407460:TTTTTT: 6/16436)...

- Apr 26, 2021 (155)
134 14KJPN

Submission ignored due to conflicting rows:
Row 121251096 (NC_000020.11:426816:TTTTTTTT: 715/22216)
Row 121251097 (NC_000020.11:426816:TTTTT: 929/22216)
Row 121251098 (NC_000020.11:426816:TTTTTT: 8/22216)...

- Oct 13, 2022 (156)
135 14KJPN

Submission ignored due to conflicting rows:
Row 121251096 (NC_000020.11:426816:TTTTTTTT: 715/22216)
Row 121251097 (NC_000020.11:426816:TTTTT: 929/22216)
Row 121251098 (NC_000020.11:426816:TTTTTT: 8/22216)...

- Oct 13, 2022 (156)
136 14KJPN

Submission ignored due to conflicting rows:
Row 121251096 (NC_000020.11:426816:TTTTTTTT: 715/22216)
Row 121251097 (NC_000020.11:426816:TTTTT: 929/22216)
Row 121251098 (NC_000020.11:426816:TTTTTT: 8/22216)...

- Oct 13, 2022 (156)
137 14KJPN

Submission ignored due to conflicting rows:
Row 121251096 (NC_000020.11:426816:TTTTTTTT: 715/22216)
Row 121251097 (NC_000020.11:426816:TTTTT: 929/22216)
Row 121251098 (NC_000020.11:426816:TTTTTT: 8/22216)...

- Oct 13, 2022 (156)
138 14KJPN

Submission ignored due to conflicting rows:
Row 121251096 (NC_000020.11:426816:TTTTTTTT: 715/22216)
Row 121251097 (NC_000020.11:426816:TTTTT: 929/22216)
Row 121251098 (NC_000020.11:426816:TTTTTT: 8/22216)...

- Oct 13, 2022 (156)
139 14KJPN

Submission ignored due to conflicting rows:
Row 121251096 (NC_000020.11:426816:TTTTTTTT: 715/22216)
Row 121251097 (NC_000020.11:426816:TTTTT: 929/22216)
Row 121251098 (NC_000020.11:426816:TTTTTT: 8/22216)...

- Oct 13, 2022 (156)
140 TopMed

Submission ignored due to conflicting rows:
Row 354927663 (NC_000020.11:426816:TTTTTTTTTTTTTTTTT: 2/264690)
Row 354927664 (NC_000020.11:426816:TTTTTTTTTTTTTTTTTT: 1/264690)

- Apr 26, 2021 (155)
141 TopMed

Submission ignored due to conflicting rows:
Row 354927663 (NC_000020.11:426816:TTTTTTTTTTTTTTTTT: 2/264690)
Row 354927664 (NC_000020.11:426816:TTTTTTTTTTTTTTTTTT: 1/264690)

- Apr 26, 2021 (155)
142 ALFA NC_000020.11 - 426817 Apr 26, 2021 (155)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
5369925939 NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT

NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT

(self)
ss1809385434 NC_000020.10:407460:TTTTTTTTTTTTTT…

NC_000020.10:407460:TTTTTTTTTTTTTTTTTTT:

NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT

(self)
ss4333863102, ss5500255010 NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTT:

NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT

(self)
5369925939 NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT

NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT

(self)
ss4333863101, ss5079818719 NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTT:

NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT

(self)
5369925939 NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT

NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT

(self)
ss4333863100, ss5079818718 NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTT:

NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT

(self)
5369925939 NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT

NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT

(self)
5369925939 NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT

NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT

(self)
ss4333863099 NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTT:

NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT

(self)
5369925939 NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT

NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT

(self)
ss4333863098 NC_000020.11:426816:TTTTTTTTTTTTTT: NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

(self)
5369925939 NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

(self)
ss4333863097 NC_000020.11:426816:TTTTTTTTTTTTT: NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
5369925939 NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
ss4333863096 NC_000020.11:426816:TTTTTTTTTTTT: NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
5369925939 NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
ss4333863095, ss5787413997 NC_000020.11:426816:TTTTTTTTTTT: NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
5369925939 NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
ss4333863094 NC_000020.11:426816:TTTTTTTTTT: NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
5369925939 NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
ss4333863093, ss5307830497, ss5500255012 NC_000020.11:426816:TTTTTTTTT: NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

(self)
5369925939 NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

(self)
ss5228518405 NC_000020.10:407460:TTTTTTTT: NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
ss4333863092, ss5307830500, ss5787413992 NC_000020.11:426816:TTTTTTTT: NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
5369925939 NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
ss3017748790 NC_000020.10:407460:TTTTTTT: NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
ss4333863091, ss5307830498, ss5500255011 NC_000020.11:426816:TTTTTTT: NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
5369925939 NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
ss5228518407 NC_000020.10:407460:TTTTTT: NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

(self)
ss4333863090, ss5787413994 NC_000020.11:426816:TTTTTT: NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

(self)
5369925939 NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

(self)
ss5228518406 NC_000020.10:407460:TTTTT: NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4333863089, ss5307830496, ss5500255009, ss5787413993 NC_000020.11:426816:TTTTT: NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

(self)
5369925939 NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

(self)
ss5228518410 NC_000020.10:407460:TTTT: NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4333863088 NC_000020.11:426816:TTTT: NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT

(self)
5369925939 NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT

NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4333863087 NC_000020.11:426816:TTT: NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT

(self)
5369925939 NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT

NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT

(self)
5369925939 NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
744386, ss1575660828, ss5228518409 NC_000020.10:407460:T: NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss5500255007, ss5787413995 NC_000020.11:426816:T: NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
5369925939 NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss5228518408 NC_000020.10:407460::T NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4333863053, ss5500255008, ss5787413996 NC_000020.11:426816::T NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
5369925939 NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4333863054, ss5307830499 NC_000020.11:426816::TT NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
5369925939 NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4333863079 NC_000020.11:426816::TTTTTTTTTTTTT…

NC_000020.11:426816::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCT

NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4333863080 NC_000020.11:426816::TTTTTTTTTTTTT…

NC_000020.11:426816::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTT

NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4333863055 NC_000020.11:426816::TTT NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
5369925939 NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4333863081 NC_000020.11:426816::TTTTTTTTTTTTT…

NC_000020.11:426816::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCT

NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4333863082 NC_000020.11:426816::TTTTTTTTTTTTT…

NC_000020.11:426816::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTT

NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4333863056 NC_000020.11:426816::TTTT NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
5369925939 NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4333863083 NC_000020.11:426816::TTTTTTTTTTTTT…

NC_000020.11:426816::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTT

NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4333863057 NC_000020.11:426816::TTTTT NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
5369925939 NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4333863058 NC_000020.11:426816::TTTTTT NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
5369925939 NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4333863059 NC_000020.11:426816::TTTTTTT NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4333863060 NC_000020.11:426816::TTTTTTTT NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4333863061 NC_000020.11:426816::TTTTTTTTT NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4333863062 NC_000020.11:426816::TTTTTTTTTT NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4333863063 NC_000020.11:426816::TTTTTTTTTTT NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
5369925939 NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4333863064 NC_000020.11:426816::TTTTTTTTTTTT NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4333863065 NC_000020.11:426816::TTTTTTTTTTTTT NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4333863066 NC_000020.11:426816::TTTTTTTTTTTTT…

NC_000020.11:426816::TTTTTTTTTTTTTTTT

NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4333863067 NC_000020.11:426816::TTTTTTTTTTTTT…

NC_000020.11:426816::TTTTTTTTTTTTTTTTT

NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4333863068 NC_000020.11:426816::TTTTTTTTTTTTT…

NC_000020.11:426816::TTTTTTTTTTTTTTTTTT

NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4333863069 NC_000020.11:426816::TTTTTTTTTTTTT…

NC_000020.11:426816::TTTTTTTTTTTTTTTTTTT

NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4333863070 NC_000020.11:426816::TTTTTTTTTTTTT…

NC_000020.11:426816::TTTTTTTTTTTTTTTTTTTTT

NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4333863071 NC_000020.11:426816::TTTTTTTTTTTTT…

NC_000020.11:426816::TTTTTTTTTTTTTTTTTTTTTT

NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4333863072 NC_000020.11:426816::TTTTTTTTTTTTT…

NC_000020.11:426816::TTTTTTTTTTTTTTTTTTTTTTT

NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4333863073 NC_000020.11:426816::TTTTTTTTTTTTT…

NC_000020.11:426816::TTTTTTTTTTTTTTTTTTTTTTTT

NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4333863074 NC_000020.11:426816::TTTTTTTTTTTTT…

NC_000020.11:426816::TTTTTTTTTTTTTTTTTTTTTTTTT

NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4333863075 NC_000020.11:426816::TTTTTTTTTTTTT…

NC_000020.11:426816::TTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4333863076 NC_000020.11:426816::TTTTTTTTTTTTT…

NC_000020.11:426816::TTTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4333863077 NC_000020.11:426816::TTTTTTTTTTTTT…

NC_000020.11:426816::TTTTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4333863078 NC_000020.11:426816::TTTTTTTTTTTTT…

NC_000020.11:426816::TTTTTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4333863084 NC_000020.11:426816::TTTTTTTTTTTTT…

NC_000020.11:426816::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4333863085 NC_000020.11:426816::TTTTTTTTTTTTT…

NC_000020.11:426816::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
Removed from this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Destination RSIDs
ss3353102484 NC_000020.11:426816:TT: NC_000020.11:426816:TTTTTTTTTTTTTT…

NC_000020.11:426816:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT

Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs768525416

Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post820+afb47a3d