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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.

rs34424574

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr5:178207692-178207715 (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)15 / del(T)14 / del(T)13 / d…

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 / dupTTT / dup(T)4 / dup(T)6 / dup(T)7 / dup(T)8 / dup(T)9 / dup(T)10 / dup(T)11 / dup(T)13 / dup(T)14 / dup(T)15 / dup(T)16 / dup(T)20 / ins(T)34 / ins(T)35 / ins(T)36

Variation Type
Indel Insertion and Deletion
Frequency
delTT=0.1582 (744/4704, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PHYKPL : Non Coding Transcript Variant
HNRNPAB : 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 4704 TTTTTTTTTTTTTTTTTTTTTTTT=0.6431 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=0.0342, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0247, TTTTTTTTTTTTTTTTTTTTT=0.1246, TTTTTTTTTTTTTTTTTTTTTT=0.1582, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0089, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0064, TTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000 0.738247 0.047014 0.21474 27
European Sub 4664 TTTTTTTTTTTTTTTTTTTTTTTT=0.6411 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=0.0343, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0249, TTTTTTTTTTTTTTTTTTTTT=0.1252, TTTTTTTTTTTTTTTTTTTTTT=0.1593, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0088, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0064, TTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000 0.735389 0.047527 0.217084 26
African Sub 20 TTTTTTTTTTTTTTTTTTTTTTTT=1.00 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, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
African Others Sub 0 TTTTTTTTTTTTTTTTTTTTTTTT=0 TTTTTTTTT=0, TTTTTTTTTT=0, TTTTTTTTTTT=0, TTTTTTTTTTTT=0, TTTTTTTTTTTTT=0, TTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0 0 0 0 N/A
African American Sub 20 TTTTTTTTTTTTTTTTTTTTTTTT=1.00 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, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Asian Sub 0 TTTTTTTTTTTTTTTTTTTTTTTT=0 TTTTTTTTT=0, TTTTTTTTTT=0, TTTTTTTTTTT=0, TTTTTTTTTTTT=0, TTTTTTTTTTTTT=0, TTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0 0 0 0 N/A
East Asian Sub 0 TTTTTTTTTTTTTTTTTTTTTTTT=0 TTTTTTTTT=0, TTTTTTTTTT=0, TTTTTTTTTTT=0, TTTTTTTTTTTT=0, TTTTTTTTTTTTT=0, TTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0 0 0 0 N/A
Other Asian Sub 0 TTTTTTTTTTTTTTTTTTTTTTTT=0 TTTTTTTTT=0, TTTTTTTTTT=0, TTTTTTTTTTT=0, TTTTTTTTTTTT=0, TTTTTTTTTTTTT=0, TTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0 0 0 0 N/A
Latin American 1 Sub 4 TTTTTTTTTTTTTTTTTTTTTTTT=1.0 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, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0 1.0 0.0 0.0 N/A
Latin American 2 Sub 2 TTTTTTTTTTTTTTTTTTTTTTTT=1.0 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, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0 1.0 0.0 0.0 N/A
South Asian Sub 0 TTTTTTTTTTTTTTTTTTTTTTTT=0 TTTTTTTTT=0, TTTTTTTTTT=0, TTTTTTTTTTT=0, TTTTTTTTTTTT=0, TTTTTTTTTTTTT=0, TTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0 0 0 0 N/A
Other Sub 14 TTTTTTTTTTTTTTTTTTTTTTTT=0.64 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=0.07, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.14, TTTTTTTTTTTTTTTTTTTTTT=0.07, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.07, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00 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 4704 (T)24=0.6431 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=0.0342, del(T)5=0.0000, del(T)4=0.0247, delTTT=0.1246, delTT=0.1582, delT=0.0000, dupT=0.0000, dupTT=0.0000, dupTTT=0.0089, dup(T)4=0.0064
Allele Frequency Aggregator European Sub 4664 (T)24=0.6411 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=0.0343, del(T)5=0.0000, del(T)4=0.0249, delTTT=0.1252, delTT=0.1593, delT=0.0000, dupT=0.0000, dupTT=0.0000, dupTTT=0.0088, dup(T)4=0.0064
Allele Frequency Aggregator African Sub 20 (T)24=1.00 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
Allele Frequency Aggregator Other Sub 14 (T)24=0.64 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=0.07, del(T)5=0.00, del(T)4=0.00, delTTT=0.14, delTT=0.07, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.07, dup(T)4=0.00
Allele Frequency Aggregator Latin American 1 Sub 4 (T)24=1.0 del(T)15=0.0, del(T)14=0.0, del(T)13=0.0, del(T)12=0.0, del(T)11=0.0, del(T)10=0.0, del(T)9=0.0, del(T)8=0.0, del(T)7=0.0, del(T)6=0.0, del(T)5=0.0, del(T)4=0.0, delTTT=0.0, delTT=0.0, delT=0.0, dupT=0.0, dupTT=0.0, dupTTT=0.0, dup(T)4=0.0
Allele Frequency Aggregator Latin American 2 Sub 2 (T)24=1.0 del(T)15=0.0, del(T)14=0.0, del(T)13=0.0, del(T)12=0.0, del(T)11=0.0, del(T)10=0.0, del(T)9=0.0, del(T)8=0.0, del(T)7=0.0, del(T)6=0.0, del(T)5=0.0, del(T)4=0.0, delTTT=0.0, delTT=0.0, delT=0.0, dupT=0.0, dupTT=0.0, dupTTT=0.0, dup(T)4=0.0
Allele Frequency Aggregator South Asian Sub 0 (T)24=0 del(T)15=0, del(T)14=0, del(T)13=0, del(T)12=0, del(T)11=0, del(T)10=0, del(T)9=0, del(T)8=0, del(T)7=0, del(T)6=0, del(T)5=0, del(T)4=0, delTTT=0, delTT=0, delT=0, dupT=0, dupTT=0, dupTTT=0, dup(T)4=0
Allele Frequency Aggregator Asian Sub 0 (T)24=0 del(T)15=0, del(T)14=0, del(T)13=0, del(T)12=0, del(T)11=0, del(T)10=0, del(T)9=0, del(T)8=0, del(T)7=0, del(T)6=0, del(T)5=0, del(T)4=0, delTTT=0, delTT=0, delT=0, dupT=0, dupTT=0, dupTTT=0, dup(T)4=0
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 5 NC_000005.10:g.178207701_178207715del
GRCh38.p14 chr 5 NC_000005.10:g.178207702_178207715del
GRCh38.p14 chr 5 NC_000005.10:g.178207703_178207715del
GRCh38.p14 chr 5 NC_000005.10:g.178207704_178207715del
GRCh38.p14 chr 5 NC_000005.10:g.178207705_178207715del
GRCh38.p14 chr 5 NC_000005.10:g.178207706_178207715del
GRCh38.p14 chr 5 NC_000005.10:g.178207707_178207715del
GRCh38.p14 chr 5 NC_000005.10:g.178207708_178207715del
GRCh38.p14 chr 5 NC_000005.10:g.178207709_178207715del
GRCh38.p14 chr 5 NC_000005.10:g.178207710_178207715del
GRCh38.p14 chr 5 NC_000005.10:g.178207711_178207715del
GRCh38.p14 chr 5 NC_000005.10:g.178207712_178207715del
GRCh38.p14 chr 5 NC_000005.10:g.178207713_178207715del
GRCh38.p14 chr 5 NC_000005.10:g.178207714_178207715del
GRCh38.p14 chr 5 NC_000005.10:g.178207715del
GRCh38.p14 chr 5 NC_000005.10:g.178207715dup
GRCh38.p14 chr 5 NC_000005.10:g.178207714_178207715dup
GRCh38.p14 chr 5 NC_000005.10:g.178207713_178207715dup
GRCh38.p14 chr 5 NC_000005.10:g.178207712_178207715dup
GRCh38.p14 chr 5 NC_000005.10:g.178207710_178207715dup
GRCh38.p14 chr 5 NC_000005.10:g.178207709_178207715dup
GRCh38.p14 chr 5 NC_000005.10:g.178207708_178207715dup
GRCh38.p14 chr 5 NC_000005.10:g.178207707_178207715dup
GRCh38.p14 chr 5 NC_000005.10:g.178207706_178207715dup
GRCh38.p14 chr 5 NC_000005.10:g.178207705_178207715dup
GRCh38.p14 chr 5 NC_000005.10:g.178207703_178207715dup
GRCh38.p14 chr 5 NC_000005.10:g.178207702_178207715dup
GRCh38.p14 chr 5 NC_000005.10:g.178207701_178207715dup
GRCh38.p14 chr 5 NC_000005.10:g.178207700_178207715dup
GRCh38.p14 chr 5 NC_000005.10:g.178207696_178207715dup
GRCh38.p14 chr 5 NC_000005.10:g.178207715_178207716insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 5 NC_000005.10:g.178207715_178207716insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 5 NC_000005.10:g.178207715_178207716insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 5 NC_000005.9:g.177634702_177634716del
GRCh37.p13 chr 5 NC_000005.9:g.177634703_177634716del
GRCh37.p13 chr 5 NC_000005.9:g.177634704_177634716del
GRCh37.p13 chr 5 NC_000005.9:g.177634705_177634716del
GRCh37.p13 chr 5 NC_000005.9:g.177634706_177634716del
GRCh37.p13 chr 5 NC_000005.9:g.177634707_177634716del
GRCh37.p13 chr 5 NC_000005.9:g.177634708_177634716del
GRCh37.p13 chr 5 NC_000005.9:g.177634709_177634716del
GRCh37.p13 chr 5 NC_000005.9:g.177634710_177634716del
GRCh37.p13 chr 5 NC_000005.9:g.177634711_177634716del
GRCh37.p13 chr 5 NC_000005.9:g.177634712_177634716del
GRCh37.p13 chr 5 NC_000005.9:g.177634713_177634716del
GRCh37.p13 chr 5 NC_000005.9:g.177634714_177634716del
GRCh37.p13 chr 5 NC_000005.9:g.177634715_177634716del
GRCh37.p13 chr 5 NC_000005.9:g.177634716del
GRCh37.p13 chr 5 NC_000005.9:g.177634716dup
GRCh37.p13 chr 5 NC_000005.9:g.177634715_177634716dup
GRCh37.p13 chr 5 NC_000005.9:g.177634714_177634716dup
GRCh37.p13 chr 5 NC_000005.9:g.177634713_177634716dup
GRCh37.p13 chr 5 NC_000005.9:g.177634711_177634716dup
GRCh37.p13 chr 5 NC_000005.9:g.177634710_177634716dup
GRCh37.p13 chr 5 NC_000005.9:g.177634709_177634716dup
GRCh37.p13 chr 5 NC_000005.9:g.177634708_177634716dup
GRCh37.p13 chr 5 NC_000005.9:g.177634707_177634716dup
GRCh37.p13 chr 5 NC_000005.9:g.177634706_177634716dup
GRCh37.p13 chr 5 NC_000005.9:g.177634704_177634716dup
GRCh37.p13 chr 5 NC_000005.9:g.177634703_177634716dup
GRCh37.p13 chr 5 NC_000005.9:g.177634702_177634716dup
GRCh37.p13 chr 5 NC_000005.9:g.177634701_177634716dup
GRCh37.p13 chr 5 NC_000005.9:g.177634697_177634716dup
GRCh37.p13 chr 5 NC_000005.9:g.177634716_177634717insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 5 NC_000005.9:g.177634716_177634717insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 5 NC_000005.9:g.177634716_177634717insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
PHYKPL RefSeqGene NG_033253.2:g.30117_30131del
PHYKPL RefSeqGene NG_033253.2:g.30118_30131del
PHYKPL RefSeqGene NG_033253.2:g.30119_30131del
PHYKPL RefSeqGene NG_033253.2:g.30120_30131del
PHYKPL RefSeqGene NG_033253.2:g.30121_30131del
PHYKPL RefSeqGene NG_033253.2:g.30122_30131del
PHYKPL RefSeqGene NG_033253.2:g.30123_30131del
PHYKPL RefSeqGene NG_033253.2:g.30124_30131del
PHYKPL RefSeqGene NG_033253.2:g.30125_30131del
PHYKPL RefSeqGene NG_033253.2:g.30126_30131del
PHYKPL RefSeqGene NG_033253.2:g.30127_30131del
PHYKPL RefSeqGene NG_033253.2:g.30128_30131del
PHYKPL RefSeqGene NG_033253.2:g.30129_30131del
PHYKPL RefSeqGene NG_033253.2:g.30130_30131del
PHYKPL RefSeqGene NG_033253.2:g.30131del
PHYKPL RefSeqGene NG_033253.2:g.30131dup
PHYKPL RefSeqGene NG_033253.2:g.30130_30131dup
PHYKPL RefSeqGene NG_033253.2:g.30129_30131dup
PHYKPL RefSeqGene NG_033253.2:g.30128_30131dup
PHYKPL RefSeqGene NG_033253.2:g.30126_30131dup
PHYKPL RefSeqGene NG_033253.2:g.30125_30131dup
PHYKPL RefSeqGene NG_033253.2:g.30124_30131dup
PHYKPL RefSeqGene NG_033253.2:g.30123_30131dup
PHYKPL RefSeqGene NG_033253.2:g.30122_30131dup
PHYKPL RefSeqGene NG_033253.2:g.30121_30131dup
PHYKPL RefSeqGene NG_033253.2:g.30119_30131dup
PHYKPL RefSeqGene NG_033253.2:g.30118_30131dup
PHYKPL RefSeqGene NG_033253.2:g.30117_30131dup
PHYKPL RefSeqGene NG_033253.2:g.30116_30131dup
PHYKPL RefSeqGene NG_033253.2:g.30112_30131dup
PHYKPL RefSeqGene NG_033253.2:g.30131_30132insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
PHYKPL RefSeqGene NG_033253.2:g.30131_30132insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
PHYKPL RefSeqGene NG_033253.2:g.30131_30132insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene: HNRNPAB, heterogeneous nuclear ribonucleoprotein A/B (plus strand)
Molecule type Change Amino acid[Codon] SO Term
HNRNPAB transcript variant 2 NM_004499.4:c.669+476_669…

NM_004499.4:c.669+476_669+490del

N/A Intron Variant
HNRNPAB transcript variant 1 NM_031266.3:c.669+476_669…

NM_031266.3:c.669+476_669+490del

N/A Intron Variant
HNRNPAB transcript variant X1 XM_047417138.1:c.669+476_…

XM_047417138.1:c.669+476_669+490del

N/A Intron Variant
HNRNPAB transcript variant X2 XM_047417139.1:c.669+476_…

XM_047417139.1:c.669+476_669+490del

N/A Intron Variant
Gene: PHYKPL, 5-phosphohydroxy-L-lysine phospho-lyase (minus strand)
Molecule type Change Amino acid[Codon] SO Term
PHYKPL transcript variant 3 NM_001278346.1:c. N/A Genic Downstream Transcript Variant
PHYKPL transcript variant 2 NM_153373.4:c. N/A Genic Downstream Transcript Variant
PHYKPL transcript variant 1 NR_103508.1:n. N/A Genic Downstream Transcript Variant
PHYKPL transcript variant 4 NR_103509.1:n. N/A Genic Downstream Transcript Variant
PHYKPL transcript variant 5 NR_103510.1:n. N/A Genic Downstream Transcript Variant
PHYKPL transcript variant X10 XM_006714925.3:c. N/A Genic Downstream Transcript Variant
PHYKPL transcript variant X1 XM_011534669.3:c. N/A Genic Downstream Transcript Variant
PHYKPL transcript variant X4 XM_011534670.4:c. N/A Genic Downstream Transcript Variant
PHYKPL transcript variant X5 XM_011534671.3:c. N/A Genic Downstream Transcript Variant
PHYKPL transcript variant X17 XM_011534674.3:c. N/A Genic Downstream Transcript Variant
PHYKPL transcript variant X7 XM_017009995.2:c. N/A Genic Downstream Transcript Variant
PHYKPL transcript variant X14 XM_024446240.2:c. N/A Genic Downstream Transcript Variant
PHYKPL transcript variant X19 XM_024446241.2:c. N/A Genic Downstream Transcript Variant
PHYKPL transcript variant X23 XM_024446243.2:c. N/A Genic Downstream Transcript Variant
PHYKPL transcript variant X24 XM_024446245.2:c. N/A Genic Downstream Transcript Variant
PHYKPL transcript variant X25 XM_024446247.2:c. N/A Genic Downstream Transcript Variant
PHYKPL transcript variant X27 XM_024446250.2:c. N/A Genic Downstream Transcript Variant
PHYKPL transcript variant X28 XM_024446251.2:c. N/A Genic Downstream Transcript Variant
PHYKPL transcript variant X29 XM_024446252.2:c. N/A Genic Downstream Transcript Variant
PHYKPL transcript variant X8 XM_047417837.1:c. N/A Genic Downstream Transcript Variant
PHYKPL transcript variant X15 XM_047417838.1:c. N/A Genic Downstream Transcript Variant
PHYKPL transcript variant X18 XM_047417839.1:c. N/A Genic Downstream Transcript Variant
PHYKPL transcript variant X20 XM_047417840.1:c. N/A Genic Downstream Transcript Variant
PHYKPL transcript variant X22 XM_047417841.1:c. N/A Genic Downstream Transcript Variant
PHYKPL transcript variant X30 XM_047417843.1:c. N/A Genic Downstream Transcript Variant
PHYKPL transcript variant X2 XR_007058648.1:n.2422_243…

XR_007058648.1:n.2422_2436del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X2 XR_007058648.1:n.2423_243…

XR_007058648.1:n.2423_2436del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X2 XR_007058648.1:n.2424_243…

XR_007058648.1:n.2424_2436del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X2 XR_007058648.1:n.2425_243…

XR_007058648.1:n.2425_2436del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X2 XR_007058648.1:n.2426_243…

XR_007058648.1:n.2426_2436del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X2 XR_007058648.1:n.2427_243…

XR_007058648.1:n.2427_2436del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X2 XR_007058648.1:n.2428_243…

XR_007058648.1:n.2428_2436del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X2 XR_007058648.1:n.2429_243…

XR_007058648.1:n.2429_2436del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X2 XR_007058648.1:n.2430_243…

XR_007058648.1:n.2430_2436del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X2 XR_007058648.1:n.2431_243…

XR_007058648.1:n.2431_2436del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X2 XR_007058648.1:n.2432_243…

XR_007058648.1:n.2432_2436del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X2 XR_007058648.1:n.2433_243…

XR_007058648.1:n.2433_2436del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X2 XR_007058648.1:n.2434_243…

XR_007058648.1:n.2434_2436del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X2 XR_007058648.1:n.2435_243…

XR_007058648.1:n.2435_2436del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X2 XR_007058648.1:n.2436del N/A Non Coding Transcript Variant
PHYKPL transcript variant X2 XR_007058648.1:n.2436dup N/A Non Coding Transcript Variant
PHYKPL transcript variant X2 XR_007058648.1:n.2435_243…

XR_007058648.1:n.2435_2436dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X2 XR_007058648.1:n.2434_243…

XR_007058648.1:n.2434_2436dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X2 XR_007058648.1:n.2433_243…

XR_007058648.1:n.2433_2436dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X2 XR_007058648.1:n.2431_243…

XR_007058648.1:n.2431_2436dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X2 XR_007058648.1:n.2430_243…

XR_007058648.1:n.2430_2436dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X2 XR_007058648.1:n.2429_243…

XR_007058648.1:n.2429_2436dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X2 XR_007058648.1:n.2428_243…

XR_007058648.1:n.2428_2436dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X2 XR_007058648.1:n.2427_243…

XR_007058648.1:n.2427_2436dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X2 XR_007058648.1:n.2426_243…

XR_007058648.1:n.2426_2436dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X2 XR_007058648.1:n.2424_243…

XR_007058648.1:n.2424_2436dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X2 XR_007058648.1:n.2423_243…

XR_007058648.1:n.2423_2436dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X2 XR_007058648.1:n.2422_243…

XR_007058648.1:n.2422_2436dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X2 XR_007058648.1:n.2421_243…

XR_007058648.1:n.2421_2436dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X2 XR_007058648.1:n.2417_243…

XR_007058648.1:n.2417_2436dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X2 XR_007058648.1:n.2436_243…

XR_007058648.1:n.2436_2437insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

N/A Non Coding Transcript Variant
PHYKPL transcript variant X2 XR_007058648.1:n.2436_243…

XR_007058648.1:n.2436_2437insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

N/A Non Coding Transcript Variant
PHYKPL transcript variant X2 XR_007058648.1:n.2436_243…

XR_007058648.1:n.2436_2437insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

N/A Non Coding Transcript Variant
PHYKPL transcript variant X3 XR_007058649.1:n.2418_243…

XR_007058649.1:n.2418_2432del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X3 XR_007058649.1:n.2419_243…

XR_007058649.1:n.2419_2432del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X3 XR_007058649.1:n.2420_243…

XR_007058649.1:n.2420_2432del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X3 XR_007058649.1:n.2421_243…

XR_007058649.1:n.2421_2432del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X3 XR_007058649.1:n.2422_243…

XR_007058649.1:n.2422_2432del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X3 XR_007058649.1:n.2423_243…

XR_007058649.1:n.2423_2432del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X3 XR_007058649.1:n.2424_243…

XR_007058649.1:n.2424_2432del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X3 XR_007058649.1:n.2425_243…

XR_007058649.1:n.2425_2432del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X3 XR_007058649.1:n.2426_243…

XR_007058649.1:n.2426_2432del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X3 XR_007058649.1:n.2427_243…

XR_007058649.1:n.2427_2432del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X3 XR_007058649.1:n.2428_243…

XR_007058649.1:n.2428_2432del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X3 XR_007058649.1:n.2429_243…

XR_007058649.1:n.2429_2432del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X3 XR_007058649.1:n.2430_243…

XR_007058649.1:n.2430_2432del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X3 XR_007058649.1:n.2431_243…

XR_007058649.1:n.2431_2432del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X3 XR_007058649.1:n.2432del N/A Non Coding Transcript Variant
PHYKPL transcript variant X3 XR_007058649.1:n.2432dup N/A Non Coding Transcript Variant
PHYKPL transcript variant X3 XR_007058649.1:n.2431_243…

XR_007058649.1:n.2431_2432dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X3 XR_007058649.1:n.2430_243…

XR_007058649.1:n.2430_2432dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X3 XR_007058649.1:n.2429_243…

XR_007058649.1:n.2429_2432dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X3 XR_007058649.1:n.2427_243…

XR_007058649.1:n.2427_2432dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X3 XR_007058649.1:n.2426_243…

XR_007058649.1:n.2426_2432dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X3 XR_007058649.1:n.2425_243…

XR_007058649.1:n.2425_2432dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X3 XR_007058649.1:n.2424_243…

XR_007058649.1:n.2424_2432dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X3 XR_007058649.1:n.2423_243…

XR_007058649.1:n.2423_2432dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X3 XR_007058649.1:n.2422_243…

XR_007058649.1:n.2422_2432dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X3 XR_007058649.1:n.2420_243…

XR_007058649.1:n.2420_2432dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X3 XR_007058649.1:n.2419_243…

XR_007058649.1:n.2419_2432dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X3 XR_007058649.1:n.2418_243…

XR_007058649.1:n.2418_2432dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X3 XR_007058649.1:n.2417_243…

XR_007058649.1:n.2417_2432dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X3 XR_007058649.1:n.2413_243…

XR_007058649.1:n.2413_2432dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X3 XR_007058649.1:n.2432_243…

XR_007058649.1:n.2432_2433insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

N/A Non Coding Transcript Variant
PHYKPL transcript variant X3 XR_007058649.1:n.2432_243…

XR_007058649.1:n.2432_2433insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

N/A Non Coding Transcript Variant
PHYKPL transcript variant X3 XR_007058649.1:n.2432_243…

XR_007058649.1:n.2432_2433insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

N/A Non Coding Transcript Variant
PHYKPL transcript variant X6 XR_007058650.1:n.2392_240…

XR_007058650.1:n.2392_2406del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X6 XR_007058650.1:n.2393_240…

XR_007058650.1:n.2393_2406del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X6 XR_007058650.1:n.2394_240…

XR_007058650.1:n.2394_2406del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X6 XR_007058650.1:n.2395_240…

XR_007058650.1:n.2395_2406del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X6 XR_007058650.1:n.2396_240…

XR_007058650.1:n.2396_2406del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X6 XR_007058650.1:n.2397_240…

XR_007058650.1:n.2397_2406del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X6 XR_007058650.1:n.2398_240…

XR_007058650.1:n.2398_2406del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X6 XR_007058650.1:n.2399_240…

XR_007058650.1:n.2399_2406del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X6 XR_007058650.1:n.2400_240…

XR_007058650.1:n.2400_2406del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X6 XR_007058650.1:n.2401_240…

XR_007058650.1:n.2401_2406del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X6 XR_007058650.1:n.2402_240…

XR_007058650.1:n.2402_2406del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X6 XR_007058650.1:n.2403_240…

XR_007058650.1:n.2403_2406del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X6 XR_007058650.1:n.2404_240…

XR_007058650.1:n.2404_2406del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X6 XR_007058650.1:n.2405_240…

XR_007058650.1:n.2405_2406del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X6 XR_007058650.1:n.2406del N/A Non Coding Transcript Variant
PHYKPL transcript variant X6 XR_007058650.1:n.2406dup N/A Non Coding Transcript Variant
PHYKPL transcript variant X6 XR_007058650.1:n.2405_240…

XR_007058650.1:n.2405_2406dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X6 XR_007058650.1:n.2404_240…

XR_007058650.1:n.2404_2406dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X6 XR_007058650.1:n.2403_240…

XR_007058650.1:n.2403_2406dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X6 XR_007058650.1:n.2401_240…

XR_007058650.1:n.2401_2406dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X6 XR_007058650.1:n.2400_240…

XR_007058650.1:n.2400_2406dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X6 XR_007058650.1:n.2399_240…

XR_007058650.1:n.2399_2406dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X6 XR_007058650.1:n.2398_240…

XR_007058650.1:n.2398_2406dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X6 XR_007058650.1:n.2397_240…

XR_007058650.1:n.2397_2406dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X6 XR_007058650.1:n.2396_240…

XR_007058650.1:n.2396_2406dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X6 XR_007058650.1:n.2394_240…

XR_007058650.1:n.2394_2406dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X6 XR_007058650.1:n.2393_240…

XR_007058650.1:n.2393_2406dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X6 XR_007058650.1:n.2392_240…

XR_007058650.1:n.2392_2406dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X6 XR_007058650.1:n.2391_240…

XR_007058650.1:n.2391_2406dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X6 XR_007058650.1:n.2387_240…

XR_007058650.1:n.2387_2406dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X6 XR_007058650.1:n.2406_240…

XR_007058650.1:n.2406_2407insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

N/A Non Coding Transcript Variant
PHYKPL transcript variant X6 XR_007058650.1:n.2406_240…

XR_007058650.1:n.2406_2407insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

N/A Non Coding Transcript Variant
PHYKPL transcript variant X6 XR_007058650.1:n.2406_240…

XR_007058650.1:n.2406_2407insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

N/A Non Coding Transcript Variant
PHYKPL transcript variant X9 XR_002956187.2:n.2291_230…

XR_002956187.2:n.2291_2305del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X9 XR_002956187.2:n.2292_230…

XR_002956187.2:n.2292_2305del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X9 XR_002956187.2:n.2293_230…

XR_002956187.2:n.2293_2305del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X9 XR_002956187.2:n.2294_230…

XR_002956187.2:n.2294_2305del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X9 XR_002956187.2:n.2295_230…

XR_002956187.2:n.2295_2305del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X9 XR_002956187.2:n.2296_230…

XR_002956187.2:n.2296_2305del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X9 XR_002956187.2:n.2297_230…

XR_002956187.2:n.2297_2305del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X9 XR_002956187.2:n.2298_230…

XR_002956187.2:n.2298_2305del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X9 XR_002956187.2:n.2299_230…

XR_002956187.2:n.2299_2305del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X9 XR_002956187.2:n.2300_230…

XR_002956187.2:n.2300_2305del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X9 XR_002956187.2:n.2301_230…

XR_002956187.2:n.2301_2305del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X9 XR_002956187.2:n.2302_230…

XR_002956187.2:n.2302_2305del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X9 XR_002956187.2:n.2303_230…

XR_002956187.2:n.2303_2305del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X9 XR_002956187.2:n.2304_230…

XR_002956187.2:n.2304_2305del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X9 XR_002956187.2:n.2305del N/A Non Coding Transcript Variant
PHYKPL transcript variant X9 XR_002956187.2:n.2305dup N/A Non Coding Transcript Variant
PHYKPL transcript variant X9 XR_002956187.2:n.2304_230…

XR_002956187.2:n.2304_2305dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X9 XR_002956187.2:n.2303_230…

XR_002956187.2:n.2303_2305dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X9 XR_002956187.2:n.2302_230…

XR_002956187.2:n.2302_2305dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X9 XR_002956187.2:n.2300_230…

XR_002956187.2:n.2300_2305dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X9 XR_002956187.2:n.2299_230…

XR_002956187.2:n.2299_2305dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X9 XR_002956187.2:n.2298_230…

XR_002956187.2:n.2298_2305dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X9 XR_002956187.2:n.2297_230…

XR_002956187.2:n.2297_2305dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X9 XR_002956187.2:n.2296_230…

XR_002956187.2:n.2296_2305dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X9 XR_002956187.2:n.2295_230…

XR_002956187.2:n.2295_2305dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X9 XR_002956187.2:n.2293_230…

XR_002956187.2:n.2293_2305dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X9 XR_002956187.2:n.2292_230…

XR_002956187.2:n.2292_2305dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X9 XR_002956187.2:n.2291_230…

XR_002956187.2:n.2291_2305dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X9 XR_002956187.2:n.2290_230…

XR_002956187.2:n.2290_2305dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X9 XR_002956187.2:n.2286_230…

XR_002956187.2:n.2286_2305dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X9 XR_002956187.2:n.2305_230…

XR_002956187.2:n.2305_2306insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

N/A Non Coding Transcript Variant
PHYKPL transcript variant X9 XR_002956187.2:n.2305_230…

XR_002956187.2:n.2305_2306insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

N/A Non Coding Transcript Variant
PHYKPL transcript variant X9 XR_002956187.2:n.2305_230…

XR_002956187.2:n.2305_2306insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

N/A Non Coding Transcript Variant
PHYKPL transcript variant X12 XR_007058651.1:n.2261_227…

XR_007058651.1:n.2261_2275del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X12 XR_007058651.1:n.2262_227…

XR_007058651.1:n.2262_2275del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X12 XR_007058651.1:n.2263_227…

XR_007058651.1:n.2263_2275del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X12 XR_007058651.1:n.2264_227…

XR_007058651.1:n.2264_2275del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X12 XR_007058651.1:n.2265_227…

XR_007058651.1:n.2265_2275del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X12 XR_007058651.1:n.2266_227…

XR_007058651.1:n.2266_2275del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X12 XR_007058651.1:n.2267_227…

XR_007058651.1:n.2267_2275del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X12 XR_007058651.1:n.2268_227…

XR_007058651.1:n.2268_2275del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X12 XR_007058651.1:n.2269_227…

XR_007058651.1:n.2269_2275del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X12 XR_007058651.1:n.2270_227…

XR_007058651.1:n.2270_2275del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X12 XR_007058651.1:n.2271_227…

XR_007058651.1:n.2271_2275del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X12 XR_007058651.1:n.2272_227…

XR_007058651.1:n.2272_2275del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X12 XR_007058651.1:n.2273_227…

XR_007058651.1:n.2273_2275del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X12 XR_007058651.1:n.2274_227…

XR_007058651.1:n.2274_2275del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X12 XR_007058651.1:n.2275del N/A Non Coding Transcript Variant
PHYKPL transcript variant X12 XR_007058651.1:n.2275dup N/A Non Coding Transcript Variant
PHYKPL transcript variant X12 XR_007058651.1:n.2274_227…

XR_007058651.1:n.2274_2275dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X12 XR_007058651.1:n.2273_227…

XR_007058651.1:n.2273_2275dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X12 XR_007058651.1:n.2272_227…

XR_007058651.1:n.2272_2275dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X12 XR_007058651.1:n.2270_227…

XR_007058651.1:n.2270_2275dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X12 XR_007058651.1:n.2269_227…

XR_007058651.1:n.2269_2275dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X12 XR_007058651.1:n.2268_227…

XR_007058651.1:n.2268_2275dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X12 XR_007058651.1:n.2267_227…

XR_007058651.1:n.2267_2275dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X12 XR_007058651.1:n.2266_227…

XR_007058651.1:n.2266_2275dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X12 XR_007058651.1:n.2265_227…

XR_007058651.1:n.2265_2275dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X12 XR_007058651.1:n.2263_227…

XR_007058651.1:n.2263_2275dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X12 XR_007058651.1:n.2262_227…

XR_007058651.1:n.2262_2275dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X12 XR_007058651.1:n.2261_227…

XR_007058651.1:n.2261_2275dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X12 XR_007058651.1:n.2260_227…

XR_007058651.1:n.2260_2275dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X12 XR_007058651.1:n.2256_227…

XR_007058651.1:n.2256_2275dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X12 XR_007058651.1:n.2275_227…

XR_007058651.1:n.2275_2276insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

N/A Non Coding Transcript Variant
PHYKPL transcript variant X12 XR_007058651.1:n.2275_227…

XR_007058651.1:n.2275_2276insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

N/A Non Coding Transcript Variant
PHYKPL transcript variant X12 XR_007058651.1:n.2275_227…

XR_007058651.1:n.2275_2276insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

N/A Non Coding Transcript Variant
PHYKPL transcript variant X26 XR_007058654.1:n.4304_431…

XR_007058654.1:n.4304_4318del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X26 XR_007058654.1:n.4305_431…

XR_007058654.1:n.4305_4318del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X26 XR_007058654.1:n.4306_431…

XR_007058654.1:n.4306_4318del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X26 XR_007058654.1:n.4307_431…

XR_007058654.1:n.4307_4318del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X26 XR_007058654.1:n.4308_431…

XR_007058654.1:n.4308_4318del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X26 XR_007058654.1:n.4309_431…

XR_007058654.1:n.4309_4318del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X26 XR_007058654.1:n.4310_431…

XR_007058654.1:n.4310_4318del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X26 XR_007058654.1:n.4311_431…

XR_007058654.1:n.4311_4318del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X26 XR_007058654.1:n.4312_431…

XR_007058654.1:n.4312_4318del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X26 XR_007058654.1:n.4313_431…

XR_007058654.1:n.4313_4318del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X26 XR_007058654.1:n.4314_431…

XR_007058654.1:n.4314_4318del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X26 XR_007058654.1:n.4315_431…

XR_007058654.1:n.4315_4318del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X26 XR_007058654.1:n.4316_431…

XR_007058654.1:n.4316_4318del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X26 XR_007058654.1:n.4317_431…

XR_007058654.1:n.4317_4318del

N/A Non Coding Transcript Variant
PHYKPL transcript variant X26 XR_007058654.1:n.4318del N/A Non Coding Transcript Variant
PHYKPL transcript variant X26 XR_007058654.1:n.4318dup N/A Non Coding Transcript Variant
PHYKPL transcript variant X26 XR_007058654.1:n.4317_431…

XR_007058654.1:n.4317_4318dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X26 XR_007058654.1:n.4316_431…

XR_007058654.1:n.4316_4318dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X26 XR_007058654.1:n.4315_431…

XR_007058654.1:n.4315_4318dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X26 XR_007058654.1:n.4313_431…

XR_007058654.1:n.4313_4318dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X26 XR_007058654.1:n.4312_431…

XR_007058654.1:n.4312_4318dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X26 XR_007058654.1:n.4311_431…

XR_007058654.1:n.4311_4318dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X26 XR_007058654.1:n.4310_431…

XR_007058654.1:n.4310_4318dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X26 XR_007058654.1:n.4309_431…

XR_007058654.1:n.4309_4318dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X26 XR_007058654.1:n.4308_431…

XR_007058654.1:n.4308_4318dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X26 XR_007058654.1:n.4306_431…

XR_007058654.1:n.4306_4318dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X26 XR_007058654.1:n.4305_431…

XR_007058654.1:n.4305_4318dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X26 XR_007058654.1:n.4304_431…

XR_007058654.1:n.4304_4318dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X26 XR_007058654.1:n.4303_431…

XR_007058654.1:n.4303_4318dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X26 XR_007058654.1:n.4299_431…

XR_007058654.1:n.4299_4318dup

N/A Non Coding Transcript Variant
PHYKPL transcript variant X26 XR_007058654.1:n.4318_431…

XR_007058654.1:n.4318_4319insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

N/A Non Coding Transcript Variant
PHYKPL transcript variant X26 XR_007058654.1:n.4318_431…

XR_007058654.1:n.4318_4319insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

N/A Non Coding Transcript Variant
PHYKPL transcript variant X26 XR_007058654.1:n.4318_431…

XR_007058654.1:n.4318_4319insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

N/A Non Coding Transcript Variant
PHYKPL transcript variant X11 XR_002956188.2:n. N/A Genic Downstream Transcript Variant
PHYKPL transcript variant X16 XR_002956189.2:n. N/A Genic Downstream Transcript Variant
PHYKPL transcript variant X13 XR_007058652.1:n. N/A Genic Downstream Transcript Variant
PHYKPL transcript variant X21 XR_007058653.1:n. 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)24= 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 dupTTT dup(T)4 dup(T)6 dup(T)7 dup(T)8 dup(T)9 dup(T)10 dup(T)11 dup(T)13 dup(T)14 dup(T)15 dup(T)16 dup(T)20 ins(T)34 ins(T)35 ins(T)36
GRCh38.p14 chr 5 NC_000005.10:g.178207692_178207715= NC_000005.10:g.178207701_178207715del NC_000005.10:g.178207702_178207715del NC_000005.10:g.178207703_178207715del NC_000005.10:g.178207704_178207715del NC_000005.10:g.178207705_178207715del NC_000005.10:g.178207706_178207715del NC_000005.10:g.178207707_178207715del NC_000005.10:g.178207708_178207715del NC_000005.10:g.178207709_178207715del NC_000005.10:g.178207710_178207715del NC_000005.10:g.178207711_178207715del NC_000005.10:g.178207712_178207715del NC_000005.10:g.178207713_178207715del NC_000005.10:g.178207714_178207715del NC_000005.10:g.178207715del NC_000005.10:g.178207715dup NC_000005.10:g.178207714_178207715dup NC_000005.10:g.178207713_178207715dup NC_000005.10:g.178207712_178207715dup NC_000005.10:g.178207710_178207715dup NC_000005.10:g.178207709_178207715dup NC_000005.10:g.178207708_178207715dup NC_000005.10:g.178207707_178207715dup NC_000005.10:g.178207706_178207715dup NC_000005.10:g.178207705_178207715dup NC_000005.10:g.178207703_178207715dup NC_000005.10:g.178207702_178207715dup NC_000005.10:g.178207701_178207715dup NC_000005.10:g.178207700_178207715dup NC_000005.10:g.178207696_178207715dup NC_000005.10:g.178207715_178207716insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NC_000005.10:g.178207715_178207716insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NC_000005.10:g.178207715_178207716insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 5 NC_000005.9:g.177634693_177634716= NC_000005.9:g.177634702_177634716del NC_000005.9:g.177634703_177634716del NC_000005.9:g.177634704_177634716del NC_000005.9:g.177634705_177634716del NC_000005.9:g.177634706_177634716del NC_000005.9:g.177634707_177634716del NC_000005.9:g.177634708_177634716del NC_000005.9:g.177634709_177634716del NC_000005.9:g.177634710_177634716del NC_000005.9:g.177634711_177634716del NC_000005.9:g.177634712_177634716del NC_000005.9:g.177634713_177634716del NC_000005.9:g.177634714_177634716del NC_000005.9:g.177634715_177634716del NC_000005.9:g.177634716del NC_000005.9:g.177634716dup NC_000005.9:g.177634715_177634716dup NC_000005.9:g.177634714_177634716dup NC_000005.9:g.177634713_177634716dup NC_000005.9:g.177634711_177634716dup NC_000005.9:g.177634710_177634716dup NC_000005.9:g.177634709_177634716dup NC_000005.9:g.177634708_177634716dup NC_000005.9:g.177634707_177634716dup NC_000005.9:g.177634706_177634716dup NC_000005.9:g.177634704_177634716dup NC_000005.9:g.177634703_177634716dup NC_000005.9:g.177634702_177634716dup NC_000005.9:g.177634701_177634716dup NC_000005.9:g.177634697_177634716dup NC_000005.9:g.177634716_177634717insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NC_000005.9:g.177634716_177634717insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NC_000005.9:g.177634716_177634717insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
PHYKPL RefSeqGene NG_033253.2:g.30108_30131= NG_033253.2:g.30117_30131del NG_033253.2:g.30118_30131del NG_033253.2:g.30119_30131del NG_033253.2:g.30120_30131del NG_033253.2:g.30121_30131del NG_033253.2:g.30122_30131del NG_033253.2:g.30123_30131del NG_033253.2:g.30124_30131del NG_033253.2:g.30125_30131del NG_033253.2:g.30126_30131del NG_033253.2:g.30127_30131del NG_033253.2:g.30128_30131del NG_033253.2:g.30129_30131del NG_033253.2:g.30130_30131del NG_033253.2:g.30131del NG_033253.2:g.30131dup NG_033253.2:g.30130_30131dup NG_033253.2:g.30129_30131dup NG_033253.2:g.30128_30131dup NG_033253.2:g.30126_30131dup NG_033253.2:g.30125_30131dup NG_033253.2:g.30124_30131dup NG_033253.2:g.30123_30131dup NG_033253.2:g.30122_30131dup NG_033253.2:g.30121_30131dup NG_033253.2:g.30119_30131dup NG_033253.2:g.30118_30131dup NG_033253.2:g.30117_30131dup NG_033253.2:g.30116_30131dup NG_033253.2:g.30112_30131dup NG_033253.2:g.30131_30132insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NG_033253.2:g.30131_30132insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NG_033253.2:g.30131_30132insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
PHYKPL transcript variant X9 XR_002956187.2:n.2282_2305= XR_002956187.2:n.2291_2305del XR_002956187.2:n.2292_2305del XR_002956187.2:n.2293_2305del XR_002956187.2:n.2294_2305del XR_002956187.2:n.2295_2305del XR_002956187.2:n.2296_2305del XR_002956187.2:n.2297_2305del XR_002956187.2:n.2298_2305del XR_002956187.2:n.2299_2305del XR_002956187.2:n.2300_2305del XR_002956187.2:n.2301_2305del XR_002956187.2:n.2302_2305del XR_002956187.2:n.2303_2305del XR_002956187.2:n.2304_2305del XR_002956187.2:n.2305del XR_002956187.2:n.2305dup XR_002956187.2:n.2304_2305dup XR_002956187.2:n.2303_2305dup XR_002956187.2:n.2302_2305dup XR_002956187.2:n.2300_2305dup XR_002956187.2:n.2299_2305dup XR_002956187.2:n.2298_2305dup XR_002956187.2:n.2297_2305dup XR_002956187.2:n.2296_2305dup XR_002956187.2:n.2295_2305dup XR_002956187.2:n.2293_2305dup XR_002956187.2:n.2292_2305dup XR_002956187.2:n.2291_2305dup XR_002956187.2:n.2290_2305dup XR_002956187.2:n.2286_2305dup XR_002956187.2:n.2305_2306insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA XR_002956187.2:n.2305_2306insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA XR_002956187.2:n.2305_2306insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
PHYKPL transcript variant X7 XR_002956187.1:n.2264_2287= XR_002956187.1:n.2273_2287del XR_002956187.1:n.2274_2287del XR_002956187.1:n.2275_2287del XR_002956187.1:n.2276_2287del XR_002956187.1:n.2277_2287del XR_002956187.1:n.2278_2287del XR_002956187.1:n.2279_2287del XR_002956187.1:n.2280_2287del XR_002956187.1:n.2281_2287del XR_002956187.1:n.2282_2287del XR_002956187.1:n.2283_2287del XR_002956187.1:n.2284_2287del XR_002956187.1:n.2285_2287del XR_002956187.1:n.2286_2287del XR_002956187.1:n.2287del XR_002956187.1:n.2287dup XR_002956187.1:n.2286_2287dup XR_002956187.1:n.2285_2287dup XR_002956187.1:n.2284_2287dup XR_002956187.1:n.2282_2287dup XR_002956187.1:n.2281_2287dup XR_002956187.1:n.2280_2287dup XR_002956187.1:n.2279_2287dup XR_002956187.1:n.2278_2287dup XR_002956187.1:n.2277_2287dup XR_002956187.1:n.2275_2287dup XR_002956187.1:n.2274_2287dup XR_002956187.1:n.2273_2287dup XR_002956187.1:n.2272_2287dup XR_002956187.1:n.2268_2287dup XR_002956187.1:n.2287_2288insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA XR_002956187.1:n.2287_2288insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA XR_002956187.1:n.2287_2288insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
PHYKPL transcript variant X26 XR_007058654.1:n.4295_4318= XR_007058654.1:n.4304_4318del XR_007058654.1:n.4305_4318del XR_007058654.1:n.4306_4318del XR_007058654.1:n.4307_4318del XR_007058654.1:n.4308_4318del XR_007058654.1:n.4309_4318del XR_007058654.1:n.4310_4318del XR_007058654.1:n.4311_4318del XR_007058654.1:n.4312_4318del XR_007058654.1:n.4313_4318del XR_007058654.1:n.4314_4318del XR_007058654.1:n.4315_4318del XR_007058654.1:n.4316_4318del XR_007058654.1:n.4317_4318del XR_007058654.1:n.4318del XR_007058654.1:n.4318dup XR_007058654.1:n.4317_4318dup XR_007058654.1:n.4316_4318dup XR_007058654.1:n.4315_4318dup XR_007058654.1:n.4313_4318dup XR_007058654.1:n.4312_4318dup XR_007058654.1:n.4311_4318dup XR_007058654.1:n.4310_4318dup XR_007058654.1:n.4309_4318dup XR_007058654.1:n.4308_4318dup XR_007058654.1:n.4306_4318dup XR_007058654.1:n.4305_4318dup XR_007058654.1:n.4304_4318dup XR_007058654.1:n.4303_4318dup XR_007058654.1:n.4299_4318dup XR_007058654.1:n.4318_4319insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA XR_007058654.1:n.4318_4319insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA XR_007058654.1:n.4318_4319insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
PHYKPL transcript variant X2 XR_007058648.1:n.2413_2436= XR_007058648.1:n.2422_2436del XR_007058648.1:n.2423_2436del XR_007058648.1:n.2424_2436del XR_007058648.1:n.2425_2436del XR_007058648.1:n.2426_2436del XR_007058648.1:n.2427_2436del XR_007058648.1:n.2428_2436del XR_007058648.1:n.2429_2436del XR_007058648.1:n.2430_2436del XR_007058648.1:n.2431_2436del XR_007058648.1:n.2432_2436del XR_007058648.1:n.2433_2436del XR_007058648.1:n.2434_2436del XR_007058648.1:n.2435_2436del XR_007058648.1:n.2436del XR_007058648.1:n.2436dup XR_007058648.1:n.2435_2436dup XR_007058648.1:n.2434_2436dup XR_007058648.1:n.2433_2436dup XR_007058648.1:n.2431_2436dup XR_007058648.1:n.2430_2436dup XR_007058648.1:n.2429_2436dup XR_007058648.1:n.2428_2436dup XR_007058648.1:n.2427_2436dup XR_007058648.1:n.2426_2436dup XR_007058648.1:n.2424_2436dup XR_007058648.1:n.2423_2436dup XR_007058648.1:n.2422_2436dup XR_007058648.1:n.2421_2436dup XR_007058648.1:n.2417_2436dup XR_007058648.1:n.2436_2437insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA XR_007058648.1:n.2436_2437insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA XR_007058648.1:n.2436_2437insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
PHYKPL transcript variant X3 XR_007058649.1:n.2409_2432= XR_007058649.1:n.2418_2432del XR_007058649.1:n.2419_2432del XR_007058649.1:n.2420_2432del XR_007058649.1:n.2421_2432del XR_007058649.1:n.2422_2432del XR_007058649.1:n.2423_2432del XR_007058649.1:n.2424_2432del XR_007058649.1:n.2425_2432del XR_007058649.1:n.2426_2432del XR_007058649.1:n.2427_2432del XR_007058649.1:n.2428_2432del XR_007058649.1:n.2429_2432del XR_007058649.1:n.2430_2432del XR_007058649.1:n.2431_2432del XR_007058649.1:n.2432del XR_007058649.1:n.2432dup XR_007058649.1:n.2431_2432dup XR_007058649.1:n.2430_2432dup XR_007058649.1:n.2429_2432dup XR_007058649.1:n.2427_2432dup XR_007058649.1:n.2426_2432dup XR_007058649.1:n.2425_2432dup XR_007058649.1:n.2424_2432dup XR_007058649.1:n.2423_2432dup XR_007058649.1:n.2422_2432dup XR_007058649.1:n.2420_2432dup XR_007058649.1:n.2419_2432dup XR_007058649.1:n.2418_2432dup XR_007058649.1:n.2417_2432dup XR_007058649.1:n.2413_2432dup XR_007058649.1:n.2432_2433insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA XR_007058649.1:n.2432_2433insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA XR_007058649.1:n.2432_2433insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
PHYKPL transcript variant X6 XR_007058650.1:n.2383_2406= XR_007058650.1:n.2392_2406del XR_007058650.1:n.2393_2406del XR_007058650.1:n.2394_2406del XR_007058650.1:n.2395_2406del XR_007058650.1:n.2396_2406del XR_007058650.1:n.2397_2406del XR_007058650.1:n.2398_2406del XR_007058650.1:n.2399_2406del XR_007058650.1:n.2400_2406del XR_007058650.1:n.2401_2406del XR_007058650.1:n.2402_2406del XR_007058650.1:n.2403_2406del XR_007058650.1:n.2404_2406del XR_007058650.1:n.2405_2406del XR_007058650.1:n.2406del XR_007058650.1:n.2406dup XR_007058650.1:n.2405_2406dup XR_007058650.1:n.2404_2406dup XR_007058650.1:n.2403_2406dup XR_007058650.1:n.2401_2406dup XR_007058650.1:n.2400_2406dup XR_007058650.1:n.2399_2406dup XR_007058650.1:n.2398_2406dup XR_007058650.1:n.2397_2406dup XR_007058650.1:n.2396_2406dup XR_007058650.1:n.2394_2406dup XR_007058650.1:n.2393_2406dup XR_007058650.1:n.2392_2406dup XR_007058650.1:n.2391_2406dup XR_007058650.1:n.2387_2406dup XR_007058650.1:n.2406_2407insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA XR_007058650.1:n.2406_2407insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA XR_007058650.1:n.2406_2407insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
PHYKPL transcript variant X12 XR_007058651.1:n.2252_2275= XR_007058651.1:n.2261_2275del XR_007058651.1:n.2262_2275del XR_007058651.1:n.2263_2275del XR_007058651.1:n.2264_2275del XR_007058651.1:n.2265_2275del XR_007058651.1:n.2266_2275del XR_007058651.1:n.2267_2275del XR_007058651.1:n.2268_2275del XR_007058651.1:n.2269_2275del XR_007058651.1:n.2270_2275del XR_007058651.1:n.2271_2275del XR_007058651.1:n.2272_2275del XR_007058651.1:n.2273_2275del XR_007058651.1:n.2274_2275del XR_007058651.1:n.2275del XR_007058651.1:n.2275dup XR_007058651.1:n.2274_2275dup XR_007058651.1:n.2273_2275dup XR_007058651.1:n.2272_2275dup XR_007058651.1:n.2270_2275dup XR_007058651.1:n.2269_2275dup XR_007058651.1:n.2268_2275dup XR_007058651.1:n.2267_2275dup XR_007058651.1:n.2266_2275dup XR_007058651.1:n.2265_2275dup XR_007058651.1:n.2263_2275dup XR_007058651.1:n.2262_2275dup XR_007058651.1:n.2261_2275dup XR_007058651.1:n.2260_2275dup XR_007058651.1:n.2256_2275dup XR_007058651.1:n.2275_2276insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA XR_007058651.1:n.2275_2276insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA XR_007058651.1:n.2275_2276insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
HNRNPAB transcript variant 2 NM_004499.3:c.669+467= NM_004499.3:c.669+476_669+490del NM_004499.3:c.669+477_669+490del NM_004499.3:c.669+478_669+490del NM_004499.3:c.669+479_669+490del NM_004499.3:c.669+480_669+490del NM_004499.3:c.669+481_669+490del NM_004499.3:c.669+482_669+490del NM_004499.3:c.669+483_669+490del NM_004499.3:c.669+484_669+490del NM_004499.3:c.669+485_669+490del NM_004499.3:c.669+486_669+490del NM_004499.3:c.669+487_669+490del NM_004499.3:c.669+488_669+490del NM_004499.3:c.669+489_669+490del NM_004499.3:c.669+490del NM_004499.3:c.669+490dup NM_004499.3:c.669+489_669+490dup NM_004499.3:c.669+488_669+490dup NM_004499.3:c.669+487_669+490dup NM_004499.3:c.669+485_669+490dup NM_004499.3:c.669+484_669+490dup NM_004499.3:c.669+483_669+490dup NM_004499.3:c.669+482_669+490dup NM_004499.3:c.669+481_669+490dup NM_004499.3:c.669+480_669+490dup NM_004499.3:c.669+478_669+490dup NM_004499.3:c.669+477_669+490dup NM_004499.3:c.669+476_669+490dup NM_004499.3:c.669+475_669+490dup NM_004499.3:c.669+471_669+490dup NM_004499.3:c.669+490_669+491insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_004499.3:c.669+490_669+491insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_004499.3:c.669+490_669+491insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
HNRNPAB transcript variant 2 NM_004499.4:c.669+467= NM_004499.4:c.669+476_669+490del NM_004499.4:c.669+477_669+490del NM_004499.4:c.669+478_669+490del NM_004499.4:c.669+479_669+490del NM_004499.4:c.669+480_669+490del NM_004499.4:c.669+481_669+490del NM_004499.4:c.669+482_669+490del NM_004499.4:c.669+483_669+490del NM_004499.4:c.669+484_669+490del NM_004499.4:c.669+485_669+490del NM_004499.4:c.669+486_669+490del NM_004499.4:c.669+487_669+490del NM_004499.4:c.669+488_669+490del NM_004499.4:c.669+489_669+490del NM_004499.4:c.669+490del NM_004499.4:c.669+490dup NM_004499.4:c.669+489_669+490dup NM_004499.4:c.669+488_669+490dup NM_004499.4:c.669+487_669+490dup NM_004499.4:c.669+485_669+490dup NM_004499.4:c.669+484_669+490dup NM_004499.4:c.669+483_669+490dup NM_004499.4:c.669+482_669+490dup NM_004499.4:c.669+481_669+490dup NM_004499.4:c.669+480_669+490dup NM_004499.4:c.669+478_669+490dup NM_004499.4:c.669+477_669+490dup NM_004499.4:c.669+476_669+490dup NM_004499.4:c.669+475_669+490dup NM_004499.4:c.669+471_669+490dup NM_004499.4:c.669+490_669+491insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_004499.4:c.669+490_669+491insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_004499.4:c.669+490_669+491insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
HNRNPAB transcript variant 1 NM_031266.2:c.669+467= NM_031266.2:c.669+476_669+490del NM_031266.2:c.669+477_669+490del NM_031266.2:c.669+478_669+490del NM_031266.2:c.669+479_669+490del NM_031266.2:c.669+480_669+490del NM_031266.2:c.669+481_669+490del NM_031266.2:c.669+482_669+490del NM_031266.2:c.669+483_669+490del NM_031266.2:c.669+484_669+490del NM_031266.2:c.669+485_669+490del NM_031266.2:c.669+486_669+490del NM_031266.2:c.669+487_669+490del NM_031266.2:c.669+488_669+490del NM_031266.2:c.669+489_669+490del NM_031266.2:c.669+490del NM_031266.2:c.669+490dup NM_031266.2:c.669+489_669+490dup NM_031266.2:c.669+488_669+490dup NM_031266.2:c.669+487_669+490dup NM_031266.2:c.669+485_669+490dup NM_031266.2:c.669+484_669+490dup NM_031266.2:c.669+483_669+490dup NM_031266.2:c.669+482_669+490dup NM_031266.2:c.669+481_669+490dup NM_031266.2:c.669+480_669+490dup NM_031266.2:c.669+478_669+490dup NM_031266.2:c.669+477_669+490dup NM_031266.2:c.669+476_669+490dup NM_031266.2:c.669+475_669+490dup NM_031266.2:c.669+471_669+490dup NM_031266.2:c.669+490_669+491insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_031266.2:c.669+490_669+491insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_031266.2:c.669+490_669+491insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
HNRNPAB transcript variant 1 NM_031266.3:c.669+467= NM_031266.3:c.669+476_669+490del NM_031266.3:c.669+477_669+490del NM_031266.3:c.669+478_669+490del NM_031266.3:c.669+479_669+490del NM_031266.3:c.669+480_669+490del NM_031266.3:c.669+481_669+490del NM_031266.3:c.669+482_669+490del NM_031266.3:c.669+483_669+490del NM_031266.3:c.669+484_669+490del NM_031266.3:c.669+485_669+490del NM_031266.3:c.669+486_669+490del NM_031266.3:c.669+487_669+490del NM_031266.3:c.669+488_669+490del NM_031266.3:c.669+489_669+490del NM_031266.3:c.669+490del NM_031266.3:c.669+490dup NM_031266.3:c.669+489_669+490dup NM_031266.3:c.669+488_669+490dup NM_031266.3:c.669+487_669+490dup NM_031266.3:c.669+485_669+490dup NM_031266.3:c.669+484_669+490dup NM_031266.3:c.669+483_669+490dup NM_031266.3:c.669+482_669+490dup NM_031266.3:c.669+481_669+490dup NM_031266.3:c.669+480_669+490dup NM_031266.3:c.669+478_669+490dup NM_031266.3:c.669+477_669+490dup NM_031266.3:c.669+476_669+490dup NM_031266.3:c.669+475_669+490dup NM_031266.3:c.669+471_669+490dup NM_031266.3:c.669+490_669+491insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_031266.3:c.669+490_669+491insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_031266.3:c.669+490_669+491insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
HNRNPAB transcript variant X1 XM_047417138.1:c.669+467= XM_047417138.1:c.669+476_669+490del XM_047417138.1:c.669+477_669+490del XM_047417138.1:c.669+478_669+490del XM_047417138.1:c.669+479_669+490del XM_047417138.1:c.669+480_669+490del XM_047417138.1:c.669+481_669+490del XM_047417138.1:c.669+482_669+490del XM_047417138.1:c.669+483_669+490del XM_047417138.1:c.669+484_669+490del XM_047417138.1:c.669+485_669+490del XM_047417138.1:c.669+486_669+490del XM_047417138.1:c.669+487_669+490del XM_047417138.1:c.669+488_669+490del XM_047417138.1:c.669+489_669+490del XM_047417138.1:c.669+490del XM_047417138.1:c.669+490dup XM_047417138.1:c.669+489_669+490dup XM_047417138.1:c.669+488_669+490dup XM_047417138.1:c.669+487_669+490dup XM_047417138.1:c.669+485_669+490dup XM_047417138.1:c.669+484_669+490dup XM_047417138.1:c.669+483_669+490dup XM_047417138.1:c.669+482_669+490dup XM_047417138.1:c.669+481_669+490dup XM_047417138.1:c.669+480_669+490dup XM_047417138.1:c.669+478_669+490dup XM_047417138.1:c.669+477_669+490dup XM_047417138.1:c.669+476_669+490dup XM_047417138.1:c.669+475_669+490dup XM_047417138.1:c.669+471_669+490dup XM_047417138.1:c.669+490_669+491insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_047417138.1:c.669+490_669+491insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_047417138.1:c.669+490_669+491insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
HNRNPAB transcript variant X2 XM_047417139.1:c.669+467= XM_047417139.1:c.669+476_669+490del XM_047417139.1:c.669+477_669+490del XM_047417139.1:c.669+478_669+490del XM_047417139.1:c.669+479_669+490del XM_047417139.1:c.669+480_669+490del XM_047417139.1:c.669+481_669+490del XM_047417139.1:c.669+482_669+490del XM_047417139.1:c.669+483_669+490del XM_047417139.1:c.669+484_669+490del XM_047417139.1:c.669+485_669+490del XM_047417139.1:c.669+486_669+490del XM_047417139.1:c.669+487_669+490del XM_047417139.1:c.669+488_669+490del XM_047417139.1:c.669+489_669+490del XM_047417139.1:c.669+490del XM_047417139.1:c.669+490dup XM_047417139.1:c.669+489_669+490dup XM_047417139.1:c.669+488_669+490dup XM_047417139.1:c.669+487_669+490dup XM_047417139.1:c.669+485_669+490dup XM_047417139.1:c.669+484_669+490dup XM_047417139.1:c.669+483_669+490dup XM_047417139.1:c.669+482_669+490dup XM_047417139.1:c.669+481_669+490dup XM_047417139.1:c.669+480_669+490dup XM_047417139.1:c.669+478_669+490dup XM_047417139.1:c.669+477_669+490dup XM_047417139.1:c.669+476_669+490dup XM_047417139.1:c.669+475_669+490dup XM_047417139.1:c.669+471_669+490dup XM_047417139.1:c.669+490_669+491insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_047417139.1:c.669+490_669+491insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XM_047417139.1:c.669+490_669+491insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
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#.

58 SubSNP, 36 Frequency submissions
No Submitter Submission ID Date (Build)
1 ABI ss42414898 Mar 14, 2006 (137)
2 ABI ss42418985 Mar 14, 2006 (126)
3 ABI ss42445822 Mar 13, 2006 (126)
4 ABI ss42533670 Mar 15, 2006 (137)
5 HGSV ss80755541 Aug 21, 2014 (142)
6 HGSV ss82326597 Aug 21, 2014 (142)
7 HUMANGENOME_JCVI ss95415669 Dec 05, 2013 (138)
8 PJP ss295258746 Aug 21, 2014 (142)
9 PJP ss295258747 May 09, 2011 (134)
10 SWEGEN ss2998328347 Nov 08, 2017 (151)
11 MCHAISSO ss3065063445 Jan 10, 2018 (151)
12 PACBIO ss3785339089 Jul 13, 2019 (153)
13 PACBIO ss3790708491 Jul 13, 2019 (153)
14 PACBIO ss3790708492 Jul 13, 2019 (153)
15 PACBIO ss3795585690 Jul 13, 2019 (153)
16 PACBIO ss3795585691 Jul 13, 2019 (153)
17 EVA ss3829669076 Apr 26, 2020 (154)
18 GNOMAD ss4135091771 Apr 26, 2021 (155)
19 GNOMAD ss4135091772 Apr 26, 2021 (155)
20 GNOMAD ss4135091773 Apr 26, 2021 (155)
21 GNOMAD ss4135091774 Apr 26, 2021 (155)
22 GNOMAD ss4135091775 Apr 26, 2021 (155)
23 GNOMAD ss4135091776 Apr 26, 2021 (155)
24 GNOMAD ss4135091777 Apr 26, 2021 (155)
25 GNOMAD ss4135091778 Apr 26, 2021 (155)
26 GNOMAD ss4135091779 Apr 26, 2021 (155)
27 GNOMAD ss4135091780 Apr 26, 2021 (155)
28 GNOMAD ss4135091781 Apr 26, 2021 (155)
29 GNOMAD ss4135091782 Apr 26, 2021 (155)
30 GNOMAD ss4135091783 Apr 26, 2021 (155)
31 GNOMAD ss4135091784 Apr 26, 2021 (155)
32 GNOMAD ss4135091785 Apr 26, 2021 (155)
33 GNOMAD ss4135091786 Apr 26, 2021 (155)
34 GNOMAD ss4135091787 Apr 26, 2021 (155)
35 GNOMAD ss4135091788 Apr 26, 2021 (155)
36 GNOMAD ss4135091789 Apr 26, 2021 (155)
37 GNOMAD ss4135091790 Apr 26, 2021 (155)
38 GNOMAD ss4135091791 Apr 26, 2021 (155)
39 GNOMAD ss4135091792 Apr 26, 2021 (155)
40 GNOMAD ss4135091793 Apr 26, 2021 (155)
41 GNOMAD ss4135091794 Apr 26, 2021 (155)
42 TOMMO_GENOMICS ss5175648940 Apr 26, 2021 (155)
43 TOMMO_GENOMICS ss5175648941 Apr 26, 2021 (155)
44 TOMMO_GENOMICS ss5175648942 Apr 26, 2021 (155)
45 TOMMO_GENOMICS ss5175648943 Apr 26, 2021 (155)
46 TOMMO_GENOMICS ss5175648944 Apr 26, 2021 (155)
47 TOMMO_GENOMICS ss5175648945 Apr 26, 2021 (155)
48 1000G_HIGH_COVERAGE ss5267004012 Oct 13, 2022 (156)
49 1000G_HIGH_COVERAGE ss5267004013 Oct 13, 2022 (156)
50 1000G_HIGH_COVERAGE ss5267004014 Oct 13, 2022 (156)
51 1000G_HIGH_COVERAGE ss5267004015 Oct 13, 2022 (156)
52 1000G_HIGH_COVERAGE ss5267004016 Oct 13, 2022 (156)
53 1000G_HIGH_COVERAGE ss5267004017 Oct 13, 2022 (156)
54 TOMMO_GENOMICS ss5713163170 Oct 13, 2022 (156)
55 TOMMO_GENOMICS ss5713163171 Oct 13, 2022 (156)
56 TOMMO_GENOMICS ss5713163172 Oct 13, 2022 (156)
57 TOMMO_GENOMICS ss5713163173 Oct 13, 2022 (156)
58 TOMMO_GENOMICS ss5713163174 Oct 13, 2022 (156)
59 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 213985898 (NC_000005.10:178207691::T 39/73076)
Row 213985899 (NC_000005.10:178207691::TT 156/72986)
Row 213985900 (NC_000005.10:178207691::TTTTTT 181/73054)...

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

Submission ignored due to conflicting rows:
Row 213985898 (NC_000005.10:178207691::T 39/73076)
Row 213985899 (NC_000005.10:178207691::TT 156/72986)
Row 213985900 (NC_000005.10:178207691::TTTTTT 181/73054)...

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

Submission ignored due to conflicting rows:
Row 213985898 (NC_000005.10:178207691::T 39/73076)
Row 213985899 (NC_000005.10:178207691::TT 156/72986)
Row 213985900 (NC_000005.10:178207691::TTTTTT 181/73054)...

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

Submission ignored due to conflicting rows:
Row 213985898 (NC_000005.10:178207691::T 39/73076)
Row 213985899 (NC_000005.10:178207691::TT 156/72986)
Row 213985900 (NC_000005.10:178207691::TTTTTT 181/73054)...

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

Submission ignored due to conflicting rows:
Row 213985898 (NC_000005.10:178207691::T 39/73076)
Row 213985899 (NC_000005.10:178207691::TT 156/72986)
Row 213985900 (NC_000005.10:178207691::TTTTTT 181/73054)...

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

Submission ignored due to conflicting rows:
Row 213985898 (NC_000005.10:178207691::T 39/73076)
Row 213985899 (NC_000005.10:178207691::TT 156/72986)
Row 213985900 (NC_000005.10:178207691::TTTTTT 181/73054)...

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

Submission ignored due to conflicting rows:
Row 213985898 (NC_000005.10:178207691::T 39/73076)
Row 213985899 (NC_000005.10:178207691::TT 156/72986)
Row 213985900 (NC_000005.10:178207691::TTTTTT 181/73054)...

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

Submission ignored due to conflicting rows:
Row 213985898 (NC_000005.10:178207691::T 39/73076)
Row 213985899 (NC_000005.10:178207691::TT 156/72986)
Row 213985900 (NC_000005.10:178207691::TTTTTT 181/73054)...

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

Submission ignored due to conflicting rows:
Row 213985898 (NC_000005.10:178207691::T 39/73076)
Row 213985899 (NC_000005.10:178207691::TT 156/72986)
Row 213985900 (NC_000005.10:178207691::TTTTTT 181/73054)...

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

Submission ignored due to conflicting rows:
Row 213985898 (NC_000005.10:178207691::T 39/73076)
Row 213985899 (NC_000005.10:178207691::TT 156/72986)
Row 213985900 (NC_000005.10:178207691::TTTTTT 181/73054)...

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

Submission ignored due to conflicting rows:
Row 213985898 (NC_000005.10:178207691::T 39/73076)
Row 213985899 (NC_000005.10:178207691::TT 156/72986)
Row 213985900 (NC_000005.10:178207691::TTTTTT 181/73054)...

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

Submission ignored due to conflicting rows:
Row 213985898 (NC_000005.10:178207691::T 39/73076)
Row 213985899 (NC_000005.10:178207691::TT 156/72986)
Row 213985900 (NC_000005.10:178207691::TTTTTT 181/73054)...

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

Submission ignored due to conflicting rows:
Row 213985898 (NC_000005.10:178207691::T 39/73076)
Row 213985899 (NC_000005.10:178207691::TT 156/72986)
Row 213985900 (NC_000005.10:178207691::TTTTTT 181/73054)...

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

Submission ignored due to conflicting rows:
Row 213985898 (NC_000005.10:178207691::T 39/73076)
Row 213985899 (NC_000005.10:178207691::TT 156/72986)
Row 213985900 (NC_000005.10:178207691::TTTTTT 181/73054)...

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

Submission ignored due to conflicting rows:
Row 213985898 (NC_000005.10:178207691::T 39/73076)
Row 213985899 (NC_000005.10:178207691::TT 156/72986)
Row 213985900 (NC_000005.10:178207691::TTTTTT 181/73054)...

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

Submission ignored due to conflicting rows:
Row 213985898 (NC_000005.10:178207691::T 39/73076)
Row 213985899 (NC_000005.10:178207691::TT 156/72986)
Row 213985900 (NC_000005.10:178207691::TTTTTT 181/73054)...

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

Submission ignored due to conflicting rows:
Row 213985898 (NC_000005.10:178207691::T 39/73076)
Row 213985899 (NC_000005.10:178207691::TT 156/72986)
Row 213985900 (NC_000005.10:178207691::TTTTTT 181/73054)...

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

Submission ignored due to conflicting rows:
Row 213985898 (NC_000005.10:178207691::T 39/73076)
Row 213985899 (NC_000005.10:178207691::TT 156/72986)
Row 213985900 (NC_000005.10:178207691::TTTTTT 181/73054)...

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

Submission ignored due to conflicting rows:
Row 213985898 (NC_000005.10:178207691::T 39/73076)
Row 213985899 (NC_000005.10:178207691::TT 156/72986)
Row 213985900 (NC_000005.10:178207691::TTTTTT 181/73054)...

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

Submission ignored due to conflicting rows:
Row 213985898 (NC_000005.10:178207691::T 39/73076)
Row 213985899 (NC_000005.10:178207691::TT 156/72986)
Row 213985900 (NC_000005.10:178207691::TTTTTT 181/73054)...

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

Submission ignored due to conflicting rows:
Row 213985898 (NC_000005.10:178207691::T 39/73076)
Row 213985899 (NC_000005.10:178207691::TT 156/72986)
Row 213985900 (NC_000005.10:178207691::TTTTTT 181/73054)...

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

Submission ignored due to conflicting rows:
Row 213985898 (NC_000005.10:178207691::T 39/73076)
Row 213985899 (NC_000005.10:178207691::TT 156/72986)
Row 213985900 (NC_000005.10:178207691::TTTTTT 181/73054)...

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

Submission ignored due to conflicting rows:
Row 213985898 (NC_000005.10:178207691::T 39/73076)
Row 213985899 (NC_000005.10:178207691::TT 156/72986)
Row 213985900 (NC_000005.10:178207691::TTTTTT 181/73054)...

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

Submission ignored due to conflicting rows:
Row 213985898 (NC_000005.10:178207691::T 39/73076)
Row 213985899 (NC_000005.10:178207691::TT 156/72986)
Row 213985900 (NC_000005.10:178207691::TTTTTT 181/73054)...

- Apr 26, 2021 (155)
83 8.3KJPN

Submission ignored due to conflicting rows:
Row 33618247 (NC_000005.9:177634692:TTT: 3051/16426)
Row 33618248 (NC_000005.9:177634692:TT: 5089/16426)
Row 33618249 (NC_000005.9:177634692:TTTT: 682/16426)...

- Apr 26, 2021 (155)
84 8.3KJPN

Submission ignored due to conflicting rows:
Row 33618247 (NC_000005.9:177634692:TTT: 3051/16426)
Row 33618248 (NC_000005.9:177634692:TT: 5089/16426)
Row 33618249 (NC_000005.9:177634692:TTTT: 682/16426)...

- Apr 26, 2021 (155)
85 8.3KJPN

Submission ignored due to conflicting rows:
Row 33618247 (NC_000005.9:177634692:TTT: 3051/16426)
Row 33618248 (NC_000005.9:177634692:TT: 5089/16426)
Row 33618249 (NC_000005.9:177634692:TTTT: 682/16426)...

- Apr 26, 2021 (155)
86 8.3KJPN

Submission ignored due to conflicting rows:
Row 33618247 (NC_000005.9:177634692:TTT: 3051/16426)
Row 33618248 (NC_000005.9:177634692:TT: 5089/16426)
Row 33618249 (NC_000005.9:177634692:TTTT: 682/16426)...

- Apr 26, 2021 (155)
87 8.3KJPN

Submission ignored due to conflicting rows:
Row 33618247 (NC_000005.9:177634692:TTT: 3051/16426)
Row 33618248 (NC_000005.9:177634692:TT: 5089/16426)
Row 33618249 (NC_000005.9:177634692:TTTT: 682/16426)...

- Apr 26, 2021 (155)
88 8.3KJPN

Submission ignored due to conflicting rows:
Row 33618247 (NC_000005.9:177634692:TTT: 3051/16426)
Row 33618248 (NC_000005.9:177634692:TT: 5089/16426)
Row 33618249 (NC_000005.9:177634692:TTTT: 682/16426)...

- Apr 26, 2021 (155)
89 14KJPN

Submission ignored due to conflicting rows:
Row 47000274 (NC_000005.10:178207691:TT: 9222/26366)
Row 47000275 (NC_000005.10:178207691:TTT: 5733/26366)
Row 47000276 (NC_000005.10:178207691:TTTTTTTT: 1716/26366)...

- Oct 13, 2022 (156)
90 14KJPN

Submission ignored due to conflicting rows:
Row 47000274 (NC_000005.10:178207691:TT: 9222/26366)
Row 47000275 (NC_000005.10:178207691:TTT: 5733/26366)
Row 47000276 (NC_000005.10:178207691:TTTTTTTT: 1716/26366)...

- Oct 13, 2022 (156)
91 14KJPN

Submission ignored due to conflicting rows:
Row 47000274 (NC_000005.10:178207691:TT: 9222/26366)
Row 47000275 (NC_000005.10:178207691:TTT: 5733/26366)
Row 47000276 (NC_000005.10:178207691:TTTTTTTT: 1716/26366)...

- Oct 13, 2022 (156)
92 14KJPN

Submission ignored due to conflicting rows:
Row 47000274 (NC_000005.10:178207691:TT: 9222/26366)
Row 47000275 (NC_000005.10:178207691:TTT: 5733/26366)
Row 47000276 (NC_000005.10:178207691:TTTTTTTT: 1716/26366)...

- Oct 13, 2022 (156)
93 14KJPN

Submission ignored due to conflicting rows:
Row 47000274 (NC_000005.10:178207691:TT: 9222/26366)
Row 47000275 (NC_000005.10:178207691:TTT: 5733/26366)
Row 47000276 (NC_000005.10:178207691:TTTTTTTT: 1716/26366)...

- Oct 13, 2022 (156)
94 ALFA NC_000005.10 - 178207692 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).

Associated ID History Updated (Build)
rs66995730 Oct 14, 2011 (136)
rs35193331 May 11, 2012 (137)
rs35779129 May 11, 2012 (137)
rs72159070 Oct 12, 2011 (135)
rs58175503 Oct 14, 2011 (136)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss4135091794 NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTT:

NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT

(self)
6419129519 NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT

NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT

(self)
6419129519 NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT

NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT

(self)
ss4135091793 NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTT:

NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT

(self)
6419129519 NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT

NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT

(self)
ss4135091792 NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTT:

NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT

(self)
6419129519 NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT

NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT

(self)
ss4135091791 NC_000005.10:178207691:TTTTTTTTTTT: NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT

(self)
6419129519 NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT

NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT

(self)
ss4135091790 NC_000005.10:178207691:TTTTTTTTTT: NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

(self)
6419129519 NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

(self)
ss4135091789 NC_000005.10:178207691:TTTTTTTTT: NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
6419129519 NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
ss82326597 NC_000005.8:177567314:TTTTTTTT: NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
ss5175648943 NC_000005.9:177634692:TTTTTTTT: NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
ss4135091788, ss5267004017, ss5713163172 NC_000005.10:178207691:TTTTTTTT: NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
6419129519 NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
ss4135091787 NC_000005.10:178207691:TTTTTTT: NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
6419129519 NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
ss2998328347, ss3829669076 NC_000005.9:177634692:TTTTTT: NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
ss5267004013 NC_000005.10:178207691:TTTTTT: NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
6419129519 NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
6419129519 NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

(self)
ss3785339089, ss3790708491, ss3795585690, ss5175648942 NC_000005.9:177634692:TTTT: NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
ss5267004012, ss5713163173 NC_000005.10:178207691:TTTT: NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
6419129519 NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
ss80755541 NC_000005.8:177567319:TTT: NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
ss3790708492, ss3795585691, ss5175648940 NC_000005.9:177634692:TTT: NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
ss5267004014, ss5713163171 NC_000005.10:178207691:TTT: NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
6419129519 NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
ss42418985 NT_023133.13:22445965:TTT: NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
ss295258746 NC_000005.8:177567298:TT: NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

(self)
ss295258747 NC_000005.8:177567320:TT: NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

(self)
ss5175648941 NC_000005.9:177634692:TT: NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

(self)
ss3065063445, ss5267004015, ss5713163170 NC_000005.10:178207691:TT: NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

(self)
6419129519 NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

(self)
ss42418985 NT_023133.13:22445965:TTT:T NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

(self)
ss5175648944 NC_000005.9:177634692:T: NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

(self)
ss5267004016, ss5713163174 NC_000005.10:178207691:T: NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

(self)
6419129519 NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

(self)
ss42414898 NT_023133.13:22445968:T: NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

(self)
ss42533670 NT_023133.13:22445969:T: NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

(self)
ss42445822 NT_023133.13:22445970:T: NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

(self)
ss95415669 NT_023133.13:22445988:T: NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4135091771 NC_000005.10:178207691::T NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT

(self)
6419129519 NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT

NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss95415669 NT_023133.13:22445988:T:TT NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4135091772 NC_000005.10:178207691::TT NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
6419129519 NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss5175648945 NC_000005.9:177634692::TTT NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
6419129519 NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
6419129519 NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4135091773 NC_000005.10:178207691::TTTTTT NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4135091774 NC_000005.10:178207691::TTTTTTT NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4135091775 NC_000005.10:178207691::TTTTTTTT NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4135091776 NC_000005.10:178207691::TTTTTTTTT NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4135091777 NC_000005.10:178207691::TTTTTTTTTT NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4135091778 NC_000005.10:178207691::TTTTTTTTTTT NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4135091779 NC_000005.10:178207691::TTTTTTTTTT…

NC_000005.10:178207691::TTTTTTTTTTTTT

NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4135091780 NC_000005.10:178207691::TTTTTTTTTT…

NC_000005.10:178207691::TTTTTTTTTTTTTT

NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4135091781 NC_000005.10:178207691::TTTTTTTTTT…

NC_000005.10:178207691::TTTTTTTTTTTTTTT

NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4135091782 NC_000005.10:178207691::TTTTTTTTTT…

NC_000005.10:178207691::TTTTTTTTTTTTTTTT

NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4135091783 NC_000005.10:178207691::TTTTTTTTTT…

NC_000005.10:178207691::TTTTTTTTTTTTTTTTTTTT

NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4135091784 NC_000005.10:178207691::TTTTTTTTTT…

NC_000005.10:178207691::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4135091785 NC_000005.10:178207691::TTTTTTTTTT…

NC_000005.10:178207691::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4135091786 NC_000005.10:178207691::TTTTTTTTTT…

NC_000005.10:178207691::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
Removed from this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Destination RSIDs
ss3487328540 NC_000005.10:178207691:TTTTT: NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

ss3487328549 NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTT:

NC_000005.10:178207691:TTTTTTTTTTT…

NC_000005.10:178207691:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT

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 rs34424574

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