Name: rs72113966
Published: September 21, 2022
License: Open Access

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.

rs72113966

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:70240771-70240792 (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)₈ / del(T)₇ / del(T)₅ / del(…
del(T)₈ / del(T)₇ / del(T)₅ / del(T)₄ / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)₄ / dup(T)₅ / dup(T)₆ / dup(T)₇ / dup(T)₈ / ins(T)₃₂
Variation Type: Indel Insertion and Deletion
Frequency: delT=0.01082 (171/15800, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: SRSF11 : 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	15800	TTTTTTTTTTTTTTTTTTTTTT=0.97804	TTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTT=0.01082, TTTTTTTTTTTTTTTTTTTTTTT=0.00614, TTTTTTTTTTTTTTTTTTTTTTTT=0.00241, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00158, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00019, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00082, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00000	0.978839	0.000258	0.020903	1
European	Sub	12856	TTTTTTTTTTTTTTTTTTTTTT=0.97316	TTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTT=0.01322, TTTTTTTTTTTTTTTTTTTTTTT=0.00747, TTTTTTTTTTTTTTTTTTTTTTTT=0.00296, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00194, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00023, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00101, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00000	0.97404	0.000319	0.025641	0
African	Sub	1958	TTTTTTTTTTTTTTTTTTTTTT=1.0000	TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	86	TTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
African American	Sub	1872	TTTTTTTTTTTTTTTTTTTTTT=1.0000	TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	36	TTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	20	TTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	16	TTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	108	TTTTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Latin American 2	Sub	414	TTTTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	56	TTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	372	TTTTTTTTTTTTTTTTTTTTTT=0.995	TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.003, TTTTTTTTTTTTTTTTTTTTTTT=0.003, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000	0.994595	0.0	0.005405	0

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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	15800	(T)₂₂=0.97804	del(T)₈=0.00000, del(T)₇=0.00000, del(T)₅=0.00000, del(T)₄=0.00000, delTTT=0.00000, delTT=0.00000, delT=0.01082, dupT=0.00614, dupTT=0.00241, dupTTT=0.00158, dup(T)₄=0.00000, dup(T)₅=0.00000, dup(T)₆=0.00082, dup(T)₇=0.00019
Allele Frequency Aggregator	European	Sub	12856	(T)₂₂=0.97316	del(T)₈=0.00000, del(T)₇=0.00000, del(T)₅=0.00000, del(T)₄=0.00000, delTTT=0.00000, delTT=0.00000, delT=0.01322, dupT=0.00747, dupTT=0.00296, dupTTT=0.00194, dup(T)₄=0.00000, dup(T)₅=0.00000, dup(T)₆=0.00101, dup(T)₇=0.00023
Allele Frequency Aggregator	African	Sub	1958	(T)₂₂=1.0000	del(T)₈=0.0000, del(T)₇=0.0000, del(T)₅=0.0000, del(T)₄=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, dupTTT=0.0000, dup(T)₄=0.0000, dup(T)₅=0.0000, dup(T)₆=0.0000, dup(T)₇=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	414	(T)₂₂=1.000	del(T)₈=0.000, del(T)₇=0.000, del(T)₅=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000, dup(T)₅=0.000, dup(T)₆=0.000, dup(T)₇=0.000
Allele Frequency Aggregator	Other	Sub	372	(T)₂₂=0.995	del(T)₈=0.000, del(T)₇=0.000, del(T)₅=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.003, dupT=0.003, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000, dup(T)₅=0.000, dup(T)₆=0.000, dup(T)₇=0.000
Allele Frequency Aggregator	Latin American 1	Sub	108	(T)₂₂=1.000	del(T)₈=0.000, del(T)₇=0.000, del(T)₅=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000, dup(T)₅=0.000, dup(T)₆=0.000, dup(T)₇=0.000
Allele Frequency Aggregator	South Asian	Sub	56	(T)₂₂=1.00	del(T)₈=0.00, del(T)₇=0.00, del(T)₅=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₅=0.00, dup(T)₆=0.00, dup(T)₇=0.00
Allele Frequency Aggregator	Asian	Sub	36	(T)₂₂=1.00	del(T)₈=0.00, del(T)₇=0.00, del(T)₅=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₅=0.00, dup(T)₆=0.00, dup(T)₇=0.00

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 1	NC_000001.11:g.70240785_70240792del
GRCh38.p14 chr 1	NC_000001.11:g.70240786_70240792del
GRCh38.p14 chr 1	NC_000001.11:g.70240788_70240792del
GRCh38.p14 chr 1	NC_000001.11:g.70240789_70240792del
GRCh38.p14 chr 1	NC_000001.11:g.70240790_70240792del
GRCh38.p14 chr 1	NC_000001.11:g.70240791_70240792del
GRCh38.p14 chr 1	NC_000001.11:g.70240792del
GRCh38.p14 chr 1	NC_000001.11:g.70240792dup
GRCh38.p14 chr 1	NC_000001.11:g.70240791_70240792dup
GRCh38.p14 chr 1	NC_000001.11:g.70240790_70240792dup
GRCh38.p14 chr 1	NC_000001.11:g.70240789_70240792dup
GRCh38.p14 chr 1	NC_000001.11:g.70240788_70240792dup
GRCh38.p14 chr 1	NC_000001.11:g.70240787_70240792dup
GRCh38.p14 chr 1	NC_000001.11:g.70240786_70240792dup
GRCh38.p14 chr 1	NC_000001.11:g.70240785_70240792dup
GRCh38.p14 chr 1	NC_000001.11:g.70240792_70240793insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 1	NC_000001.10:g.70706468_70706475del
GRCh37.p13 chr 1	NC_000001.10:g.70706469_70706475del
GRCh37.p13 chr 1	NC_000001.10:g.70706471_70706475del
GRCh37.p13 chr 1	NC_000001.10:g.70706472_70706475del
GRCh37.p13 chr 1	NC_000001.10:g.70706473_70706475del
GRCh37.p13 chr 1	NC_000001.10:g.70706474_70706475del
GRCh37.p13 chr 1	NC_000001.10:g.70706475del
GRCh37.p13 chr 1	NC_000001.10:g.70706475dup
GRCh37.p13 chr 1	NC_000001.10:g.70706474_70706475dup
GRCh37.p13 chr 1	NC_000001.10:g.70706473_70706475dup
GRCh37.p13 chr 1	NC_000001.10:g.70706472_70706475dup
GRCh37.p13 chr 1	NC_000001.10:g.70706471_70706475dup
GRCh37.p13 chr 1	NC_000001.10:g.70706470_70706475dup
GRCh37.p13 chr 1	NC_000001.10:g.70706469_70706475dup
GRCh37.p13 chr 1	NC_000001.10:g.70706468_70706475dup
GRCh37.p13 chr 1	NC_000001.10:g.70706475_70706476insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Gene: SRSF11, serine and arginine rich splicing factor 11 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SRSF11 transcript variant 2	NM_001190987.3:c.800+1265… NM_001190987.3:c.800+1265_800+1272del	N/A	Intron Variant
SRSF11 transcript variant 3	NM_001350605.2:c.800+1265… NM_001350605.2:c.800+1265_800+1272del	N/A	Intron Variant
SRSF11 transcript variant 4	NM_001350606.2:c.800+1265… NM_001350606.2:c.800+1265_800+1272del	N/A	Intron Variant
SRSF11 transcript variant 5	NM_001350607.2:c.800+1265… NM_001350607.2:c.800+1265_800+1272del	N/A	Intron Variant
SRSF11 transcript variant 6	NM_001350608.2:c.800+1265… NM_001350608.2:c.800+1265_800+1272del	N/A	Intron Variant
SRSF11 transcript variant 7	NM_001350609.2:c.800+1265… NM_001350609.2:c.800+1265_800+1272del	N/A	Intron Variant
SRSF11 transcript variant 8	NM_001350610.2:c.230+1265… NM_001350610.2:c.230+1265_230+1272del	N/A	Intron Variant
SRSF11 transcript variant 9	NM_001350611.2:c.230+1265… NM_001350611.2:c.230+1265_230+1272del	N/A	Intron Variant
SRSF11 transcript variant 10	NM_001350612.2:c.230+1265… NM_001350612.2:c.230+1265_230+1272del	N/A	Intron Variant
SRSF11 transcript variant 11	NM_001350613.2:c.230+1265… NM_001350613.2:c.230+1265_230+1272del	N/A	Intron Variant
SRSF11 transcript variant 12	NM_001350614.2:c.230+1265… NM_001350614.2:c.230+1265_230+1272del	N/A	Intron Variant
SRSF11 transcript variant 13	NM_001350615.2:c.230+1265… NM_001350615.2:c.230+1265_230+1272del	N/A	Intron Variant
SRSF11 transcript variant 14	NM_001350616.2:c.230+1265… NM_001350616.2:c.230+1265_230+1272del	N/A	Intron Variant
SRSF11 transcript variant 16	NM_001394402.1:c.833+1265… NM_001394402.1:c.833+1265_833+1272del	N/A	Intron Variant
SRSF11 transcript variant 17	NM_001394403.1:c.833+1265… NM_001394403.1:c.833+1265_833+1272del	N/A	Intron Variant
SRSF11 transcript variant 18	NM_001394404.1:c.800+1265… NM_001394404.1:c.800+1265_800+1272del	N/A	Intron Variant
SRSF11 transcript variant 19	NM_001394405.1:c.800+1265… NM_001394405.1:c.800+1265_800+1272del	N/A	Intron Variant
SRSF11 transcript variant 20	NM_001394406.1:c.800+1265… NM_001394406.1:c.800+1265_800+1272del	N/A	Intron Variant
SRSF11 transcript variant 21	NM_001394407.1:c.800+1265… NM_001394407.1:c.800+1265_800+1272del	N/A	Intron Variant
SRSF11 transcript variant 22	NM_001394408.1:c.800+1265… NM_001394408.1:c.800+1265_800+1272del	N/A	Intron Variant
SRSF11 transcript variant 1	NM_004768.5:c.800+1265_80… NM_004768.5:c.800+1265_800+1272del	N/A	Intron Variant
SRSF11 transcript variant 15	NR_146810.2:n.	N/A	Intron Variant
SRSF11 transcript variant X8	XM_024450906.2:c.620+1265… XM_024450906.2:c.620+1265_620+1272del	N/A	Intron Variant
SRSF11 transcript variant X1	XM_047434514.1:c.800+1265… XM_047434514.1:c.800+1265_800+1272del	N/A	Intron Variant
SRSF11 transcript variant X2	XM_047434516.1:c.800+1265… XM_047434516.1:c.800+1265_800+1272del	N/A	Intron Variant
SRSF11 transcript variant X3	XM_047434517.1:c.800+1265… XM_047434517.1:c.800+1265_800+1272del	N/A	Intron Variant
SRSF11 transcript variant X4	XM_047434518.1:c.800+1265… XM_047434518.1:c.800+1265_800+1272del	N/A	Intron Variant
SRSF11 transcript variant X5	XM_047434522.1:c.800+1265… XM_047434522.1:c.800+1265_800+1272del	N/A	Intron Variant
SRSF11 transcript variant X6	XM_047434523.1:c.800+1265… XM_047434523.1:c.800+1265_800+1272del	N/A	Intron Variant
SRSF11 transcript variant X7	XM_047434524.1:c.800+1265… XM_047434524.1:c.800+1265_800+1272del	N/A	Intron Variant
SRSF11 transcript variant X9	XM_047434536.1:c.620+1265… XM_047434536.1:c.620+1265_620+1272del	N/A	Intron Variant
SRSF11 transcript variant X10	XM_047434541.1:c.800+1265… XM_047434541.1:c.800+1265_800+1272del	N/A	Intron Variant

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

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)₂₂=	del(T)₈	del(T)₇	del(T)₅	del(T)₄	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₄	dup(T)₅	dup(T)₆	dup(T)₇	dup(T)₈	ins(T)₃₂
GRCh38.p14 chr 1	NC_000001.11:g.70240771_70240792=	NC_000001.11:g.70240785_70240792del	NC_000001.11:g.70240786_70240792del	NC_000001.11:g.70240788_70240792del	NC_000001.11:g.70240789_70240792del	NC_000001.11:g.70240790_70240792del	NC_000001.11:g.70240791_70240792del	NC_000001.11:g.70240792del	NC_000001.11:g.70240792dup	NC_000001.11:g.70240791_70240792dup	NC_000001.11:g.70240790_70240792dup	NC_000001.11:g.70240789_70240792dup	NC_000001.11:g.70240788_70240792dup	NC_000001.11:g.70240787_70240792dup	NC_000001.11:g.70240786_70240792dup	NC_000001.11:g.70240785_70240792dup	NC_000001.11:g.70240792_70240793insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 1	NC_000001.10:g.70706454_70706475=	NC_000001.10:g.70706468_70706475del	NC_000001.10:g.70706469_70706475del	NC_000001.10:g.70706471_70706475del	NC_000001.10:g.70706472_70706475del	NC_000001.10:g.70706473_70706475del	NC_000001.10:g.70706474_70706475del	NC_000001.10:g.70706475del	NC_000001.10:g.70706475dup	NC_000001.10:g.70706474_70706475dup	NC_000001.10:g.70706473_70706475dup	NC_000001.10:g.70706472_70706475dup	NC_000001.10:g.70706471_70706475dup	NC_000001.10:g.70706470_70706475dup	NC_000001.10:g.70706469_70706475dup	NC_000001.10:g.70706468_70706475dup	NC_000001.10:g.70706475_70706476insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SRSF11 transcript variant 2	NM_001190987.1:c.800+1251=	NM_001190987.1:c.800+1265_800+1272del	NM_001190987.1:c.800+1266_800+1272del	NM_001190987.1:c.800+1268_800+1272del	NM_001190987.1:c.800+1269_800+1272del	NM_001190987.1:c.800+1270_800+1272del	NM_001190987.1:c.800+1271_800+1272del	NM_001190987.1:c.800+1272del	NM_001190987.1:c.800+1272dup	NM_001190987.1:c.800+1271_800+1272dup	NM_001190987.1:c.800+1270_800+1272dup	NM_001190987.1:c.800+1269_800+1272dup	NM_001190987.1:c.800+1268_800+1272dup	NM_001190987.1:c.800+1267_800+1272dup	NM_001190987.1:c.800+1266_800+1272dup	NM_001190987.1:c.800+1265_800+1272dup	NM_001190987.1:c.800+1272_800+1273insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SRSF11 transcript variant 2	NM_001190987.3:c.800+1251=	NM_001190987.3:c.800+1265_800+1272del	NM_001190987.3:c.800+1266_800+1272del	NM_001190987.3:c.800+1268_800+1272del	NM_001190987.3:c.800+1269_800+1272del	NM_001190987.3:c.800+1270_800+1272del	NM_001190987.3:c.800+1271_800+1272del	NM_001190987.3:c.800+1272del	NM_001190987.3:c.800+1272dup	NM_001190987.3:c.800+1271_800+1272dup	NM_001190987.3:c.800+1270_800+1272dup	NM_001190987.3:c.800+1269_800+1272dup	NM_001190987.3:c.800+1268_800+1272dup	NM_001190987.3:c.800+1267_800+1272dup	NM_001190987.3:c.800+1266_800+1272dup	NM_001190987.3:c.800+1265_800+1272dup	NM_001190987.3:c.800+1272_800+1273insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SRSF11 transcript variant 3	NM_001350605.2:c.800+1251=	NM_001350605.2:c.800+1265_800+1272del	NM_001350605.2:c.800+1266_800+1272del	NM_001350605.2:c.800+1268_800+1272del	NM_001350605.2:c.800+1269_800+1272del	NM_001350605.2:c.800+1270_800+1272del	NM_001350605.2:c.800+1271_800+1272del	NM_001350605.2:c.800+1272del	NM_001350605.2:c.800+1272dup	NM_001350605.2:c.800+1271_800+1272dup	NM_001350605.2:c.800+1270_800+1272dup	NM_001350605.2:c.800+1269_800+1272dup	NM_001350605.2:c.800+1268_800+1272dup	NM_001350605.2:c.800+1267_800+1272dup	NM_001350605.2:c.800+1266_800+1272dup	NM_001350605.2:c.800+1265_800+1272dup	NM_001350605.2:c.800+1272_800+1273insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SRSF11 transcript variant 4	NM_001350606.2:c.800+1251=	NM_001350606.2:c.800+1265_800+1272del	NM_001350606.2:c.800+1266_800+1272del	NM_001350606.2:c.800+1268_800+1272del	NM_001350606.2:c.800+1269_800+1272del	NM_001350606.2:c.800+1270_800+1272del	NM_001350606.2:c.800+1271_800+1272del	NM_001350606.2:c.800+1272del	NM_001350606.2:c.800+1272dup	NM_001350606.2:c.800+1271_800+1272dup	NM_001350606.2:c.800+1270_800+1272dup	NM_001350606.2:c.800+1269_800+1272dup	NM_001350606.2:c.800+1268_800+1272dup	NM_001350606.2:c.800+1267_800+1272dup	NM_001350606.2:c.800+1266_800+1272dup	NM_001350606.2:c.800+1265_800+1272dup	NM_001350606.2:c.800+1272_800+1273insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SRSF11 transcript variant 5	NM_001350607.2:c.800+1251=	NM_001350607.2:c.800+1265_800+1272del	NM_001350607.2:c.800+1266_800+1272del	NM_001350607.2:c.800+1268_800+1272del	NM_001350607.2:c.800+1269_800+1272del	NM_001350607.2:c.800+1270_800+1272del	NM_001350607.2:c.800+1271_800+1272del	NM_001350607.2:c.800+1272del	NM_001350607.2:c.800+1272dup	NM_001350607.2:c.800+1271_800+1272dup	NM_001350607.2:c.800+1270_800+1272dup	NM_001350607.2:c.800+1269_800+1272dup	NM_001350607.2:c.800+1268_800+1272dup	NM_001350607.2:c.800+1267_800+1272dup	NM_001350607.2:c.800+1266_800+1272dup	NM_001350607.2:c.800+1265_800+1272dup	NM_001350607.2:c.800+1272_800+1273insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SRSF11 transcript variant 6	NM_001350608.2:c.800+1251=	NM_001350608.2:c.800+1265_800+1272del	NM_001350608.2:c.800+1266_800+1272del	NM_001350608.2:c.800+1268_800+1272del	NM_001350608.2:c.800+1269_800+1272del	NM_001350608.2:c.800+1270_800+1272del	NM_001350608.2:c.800+1271_800+1272del	NM_001350608.2:c.800+1272del	NM_001350608.2:c.800+1272dup	NM_001350608.2:c.800+1271_800+1272dup	NM_001350608.2:c.800+1270_800+1272dup	NM_001350608.2:c.800+1269_800+1272dup	NM_001350608.2:c.800+1268_800+1272dup	NM_001350608.2:c.800+1267_800+1272dup	NM_001350608.2:c.800+1266_800+1272dup	NM_001350608.2:c.800+1265_800+1272dup	NM_001350608.2:c.800+1272_800+1273insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SRSF11 transcript variant 7	NM_001350609.2:c.800+1251=	NM_001350609.2:c.800+1265_800+1272del	NM_001350609.2:c.800+1266_800+1272del	NM_001350609.2:c.800+1268_800+1272del	NM_001350609.2:c.800+1269_800+1272del	NM_001350609.2:c.800+1270_800+1272del	NM_001350609.2:c.800+1271_800+1272del	NM_001350609.2:c.800+1272del	NM_001350609.2:c.800+1272dup	NM_001350609.2:c.800+1271_800+1272dup	NM_001350609.2:c.800+1270_800+1272dup	NM_001350609.2:c.800+1269_800+1272dup	NM_001350609.2:c.800+1268_800+1272dup	NM_001350609.2:c.800+1267_800+1272dup	NM_001350609.2:c.800+1266_800+1272dup	NM_001350609.2:c.800+1265_800+1272dup	NM_001350609.2:c.800+1272_800+1273insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SRSF11 transcript variant 8	NM_001350610.2:c.230+1251=	NM_001350610.2:c.230+1265_230+1272del	NM_001350610.2:c.230+1266_230+1272del	NM_001350610.2:c.230+1268_230+1272del	NM_001350610.2:c.230+1269_230+1272del	NM_001350610.2:c.230+1270_230+1272del	NM_001350610.2:c.230+1271_230+1272del	NM_001350610.2:c.230+1272del	NM_001350610.2:c.230+1272dup	NM_001350610.2:c.230+1271_230+1272dup	NM_001350610.2:c.230+1270_230+1272dup	NM_001350610.2:c.230+1269_230+1272dup	NM_001350610.2:c.230+1268_230+1272dup	NM_001350610.2:c.230+1267_230+1272dup	NM_001350610.2:c.230+1266_230+1272dup	NM_001350610.2:c.230+1265_230+1272dup	NM_001350610.2:c.230+1272_230+1273insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SRSF11 transcript variant 9	NM_001350611.2:c.230+1251=	NM_001350611.2:c.230+1265_230+1272del	NM_001350611.2:c.230+1266_230+1272del	NM_001350611.2:c.230+1268_230+1272del	NM_001350611.2:c.230+1269_230+1272del	NM_001350611.2:c.230+1270_230+1272del	NM_001350611.2:c.230+1271_230+1272del	NM_001350611.2:c.230+1272del	NM_001350611.2:c.230+1272dup	NM_001350611.2:c.230+1271_230+1272dup	NM_001350611.2:c.230+1270_230+1272dup	NM_001350611.2:c.230+1269_230+1272dup	NM_001350611.2:c.230+1268_230+1272dup	NM_001350611.2:c.230+1267_230+1272dup	NM_001350611.2:c.230+1266_230+1272dup	NM_001350611.2:c.230+1265_230+1272dup	NM_001350611.2:c.230+1272_230+1273insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SRSF11 transcript variant 10	NM_001350612.2:c.230+1251=	NM_001350612.2:c.230+1265_230+1272del	NM_001350612.2:c.230+1266_230+1272del	NM_001350612.2:c.230+1268_230+1272del	NM_001350612.2:c.230+1269_230+1272del	NM_001350612.2:c.230+1270_230+1272del	NM_001350612.2:c.230+1271_230+1272del	NM_001350612.2:c.230+1272del	NM_001350612.2:c.230+1272dup	NM_001350612.2:c.230+1271_230+1272dup	NM_001350612.2:c.230+1270_230+1272dup	NM_001350612.2:c.230+1269_230+1272dup	NM_001350612.2:c.230+1268_230+1272dup	NM_001350612.2:c.230+1267_230+1272dup	NM_001350612.2:c.230+1266_230+1272dup	NM_001350612.2:c.230+1265_230+1272dup	NM_001350612.2:c.230+1272_230+1273insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SRSF11 transcript variant 11	NM_001350613.2:c.230+1251=	NM_001350613.2:c.230+1265_230+1272del	NM_001350613.2:c.230+1266_230+1272del	NM_001350613.2:c.230+1268_230+1272del	NM_001350613.2:c.230+1269_230+1272del	NM_001350613.2:c.230+1270_230+1272del	NM_001350613.2:c.230+1271_230+1272del	NM_001350613.2:c.230+1272del	NM_001350613.2:c.230+1272dup	NM_001350613.2:c.230+1271_230+1272dup	NM_001350613.2:c.230+1270_230+1272dup	NM_001350613.2:c.230+1269_230+1272dup	NM_001350613.2:c.230+1268_230+1272dup	NM_001350613.2:c.230+1267_230+1272dup	NM_001350613.2:c.230+1266_230+1272dup	NM_001350613.2:c.230+1265_230+1272dup	NM_001350613.2:c.230+1272_230+1273insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SRSF11 transcript variant 12	NM_001350614.2:c.230+1251=	NM_001350614.2:c.230+1265_230+1272del	NM_001350614.2:c.230+1266_230+1272del	NM_001350614.2:c.230+1268_230+1272del	NM_001350614.2:c.230+1269_230+1272del	NM_001350614.2:c.230+1270_230+1272del	NM_001350614.2:c.230+1271_230+1272del	NM_001350614.2:c.230+1272del	NM_001350614.2:c.230+1272dup	NM_001350614.2:c.230+1271_230+1272dup	NM_001350614.2:c.230+1270_230+1272dup	NM_001350614.2:c.230+1269_230+1272dup	NM_001350614.2:c.230+1268_230+1272dup	NM_001350614.2:c.230+1267_230+1272dup	NM_001350614.2:c.230+1266_230+1272dup	NM_001350614.2:c.230+1265_230+1272dup	NM_001350614.2:c.230+1272_230+1273insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SRSF11 transcript variant 13	NM_001350615.2:c.230+1251=	NM_001350615.2:c.230+1265_230+1272del	NM_001350615.2:c.230+1266_230+1272del	NM_001350615.2:c.230+1268_230+1272del	NM_001350615.2:c.230+1269_230+1272del	NM_001350615.2:c.230+1270_230+1272del	NM_001350615.2:c.230+1271_230+1272del	NM_001350615.2:c.230+1272del	NM_001350615.2:c.230+1272dup	NM_001350615.2:c.230+1271_230+1272dup	NM_001350615.2:c.230+1270_230+1272dup	NM_001350615.2:c.230+1269_230+1272dup	NM_001350615.2:c.230+1268_230+1272dup	NM_001350615.2:c.230+1267_230+1272dup	NM_001350615.2:c.230+1266_230+1272dup	NM_001350615.2:c.230+1265_230+1272dup	NM_001350615.2:c.230+1272_230+1273insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SRSF11 transcript variant 14	NM_001350616.2:c.230+1251=	NM_001350616.2:c.230+1265_230+1272del	NM_001350616.2:c.230+1266_230+1272del	NM_001350616.2:c.230+1268_230+1272del	NM_001350616.2:c.230+1269_230+1272del	NM_001350616.2:c.230+1270_230+1272del	NM_001350616.2:c.230+1271_230+1272del	NM_001350616.2:c.230+1272del	NM_001350616.2:c.230+1272dup	NM_001350616.2:c.230+1271_230+1272dup	NM_001350616.2:c.230+1270_230+1272dup	NM_001350616.2:c.230+1269_230+1272dup	NM_001350616.2:c.230+1268_230+1272dup	NM_001350616.2:c.230+1267_230+1272dup	NM_001350616.2:c.230+1266_230+1272dup	NM_001350616.2:c.230+1265_230+1272dup	NM_001350616.2:c.230+1272_230+1273insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SRSF11 transcript variant 16	NM_001394402.1:c.833+1251=	NM_001394402.1:c.833+1265_833+1272del	NM_001394402.1:c.833+1266_833+1272del	NM_001394402.1:c.833+1268_833+1272del	NM_001394402.1:c.833+1269_833+1272del	NM_001394402.1:c.833+1270_833+1272del	NM_001394402.1:c.833+1271_833+1272del	NM_001394402.1:c.833+1272del	NM_001394402.1:c.833+1272dup	NM_001394402.1:c.833+1271_833+1272dup	NM_001394402.1:c.833+1270_833+1272dup	NM_001394402.1:c.833+1269_833+1272dup	NM_001394402.1:c.833+1268_833+1272dup	NM_001394402.1:c.833+1267_833+1272dup	NM_001394402.1:c.833+1266_833+1272dup	NM_001394402.1:c.833+1265_833+1272dup	NM_001394402.1:c.833+1272_833+1273insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SRSF11 transcript variant 17	NM_001394403.1:c.833+1251=	NM_001394403.1:c.833+1265_833+1272del	NM_001394403.1:c.833+1266_833+1272del	NM_001394403.1:c.833+1268_833+1272del	NM_001394403.1:c.833+1269_833+1272del	NM_001394403.1:c.833+1270_833+1272del	NM_001394403.1:c.833+1271_833+1272del	NM_001394403.1:c.833+1272del	NM_001394403.1:c.833+1272dup	NM_001394403.1:c.833+1271_833+1272dup	NM_001394403.1:c.833+1270_833+1272dup	NM_001394403.1:c.833+1269_833+1272dup	NM_001394403.1:c.833+1268_833+1272dup	NM_001394403.1:c.833+1267_833+1272dup	NM_001394403.1:c.833+1266_833+1272dup	NM_001394403.1:c.833+1265_833+1272dup	NM_001394403.1:c.833+1272_833+1273insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SRSF11 transcript variant 18	NM_001394404.1:c.800+1251=	NM_001394404.1:c.800+1265_800+1272del	NM_001394404.1:c.800+1266_800+1272del	NM_001394404.1:c.800+1268_800+1272del	NM_001394404.1:c.800+1269_800+1272del	NM_001394404.1:c.800+1270_800+1272del	NM_001394404.1:c.800+1271_800+1272del	NM_001394404.1:c.800+1272del	NM_001394404.1:c.800+1272dup	NM_001394404.1:c.800+1271_800+1272dup	NM_001394404.1:c.800+1270_800+1272dup	NM_001394404.1:c.800+1269_800+1272dup	NM_001394404.1:c.800+1268_800+1272dup	NM_001394404.1:c.800+1267_800+1272dup	NM_001394404.1:c.800+1266_800+1272dup	NM_001394404.1:c.800+1265_800+1272dup	NM_001394404.1:c.800+1272_800+1273insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SRSF11 transcript variant 19	NM_001394405.1:c.800+1251=	NM_001394405.1:c.800+1265_800+1272del	NM_001394405.1:c.800+1266_800+1272del	NM_001394405.1:c.800+1268_800+1272del	NM_001394405.1:c.800+1269_800+1272del	NM_001394405.1:c.800+1270_800+1272del	NM_001394405.1:c.800+1271_800+1272del	NM_001394405.1:c.800+1272del	NM_001394405.1:c.800+1272dup	NM_001394405.1:c.800+1271_800+1272dup	NM_001394405.1:c.800+1270_800+1272dup	NM_001394405.1:c.800+1269_800+1272dup	NM_001394405.1:c.800+1268_800+1272dup	NM_001394405.1:c.800+1267_800+1272dup	NM_001394405.1:c.800+1266_800+1272dup	NM_001394405.1:c.800+1265_800+1272dup	NM_001394405.1:c.800+1272_800+1273insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SRSF11 transcript variant 20	NM_001394406.1:c.800+1251=	NM_001394406.1:c.800+1265_800+1272del	NM_001394406.1:c.800+1266_800+1272del	NM_001394406.1:c.800+1268_800+1272del	NM_001394406.1:c.800+1269_800+1272del	NM_001394406.1:c.800+1270_800+1272del	NM_001394406.1:c.800+1271_800+1272del	NM_001394406.1:c.800+1272del	NM_001394406.1:c.800+1272dup	NM_001394406.1:c.800+1271_800+1272dup	NM_001394406.1:c.800+1270_800+1272dup	NM_001394406.1:c.800+1269_800+1272dup	NM_001394406.1:c.800+1268_800+1272dup	NM_001394406.1:c.800+1267_800+1272dup	NM_001394406.1:c.800+1266_800+1272dup	NM_001394406.1:c.800+1265_800+1272dup	NM_001394406.1:c.800+1272_800+1273insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SRSF11 transcript variant 21	NM_001394407.1:c.800+1251=	NM_001394407.1:c.800+1265_800+1272del	NM_001394407.1:c.800+1266_800+1272del	NM_001394407.1:c.800+1268_800+1272del	NM_001394407.1:c.800+1269_800+1272del	NM_001394407.1:c.800+1270_800+1272del	NM_001394407.1:c.800+1271_800+1272del	NM_001394407.1:c.800+1272del	NM_001394407.1:c.800+1272dup	NM_001394407.1:c.800+1271_800+1272dup	NM_001394407.1:c.800+1270_800+1272dup	NM_001394407.1:c.800+1269_800+1272dup	NM_001394407.1:c.800+1268_800+1272dup	NM_001394407.1:c.800+1267_800+1272dup	NM_001394407.1:c.800+1266_800+1272dup	NM_001394407.1:c.800+1265_800+1272dup	NM_001394407.1:c.800+1272_800+1273insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SRSF11 transcript variant 22	NM_001394408.1:c.800+1251=	NM_001394408.1:c.800+1265_800+1272del	NM_001394408.1:c.800+1266_800+1272del	NM_001394408.1:c.800+1268_800+1272del	NM_001394408.1:c.800+1269_800+1272del	NM_001394408.1:c.800+1270_800+1272del	NM_001394408.1:c.800+1271_800+1272del	NM_001394408.1:c.800+1272del	NM_001394408.1:c.800+1272dup	NM_001394408.1:c.800+1271_800+1272dup	NM_001394408.1:c.800+1270_800+1272dup	NM_001394408.1:c.800+1269_800+1272dup	NM_001394408.1:c.800+1268_800+1272dup	NM_001394408.1:c.800+1267_800+1272dup	NM_001394408.1:c.800+1266_800+1272dup	NM_001394408.1:c.800+1265_800+1272dup	NM_001394408.1:c.800+1272_800+1273insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SRSF11 transcript variant 1	NM_004768.3:c.800+1251=	NM_004768.3:c.800+1265_800+1272del	NM_004768.3:c.800+1266_800+1272del	NM_004768.3:c.800+1268_800+1272del	NM_004768.3:c.800+1269_800+1272del	NM_004768.3:c.800+1270_800+1272del	NM_004768.3:c.800+1271_800+1272del	NM_004768.3:c.800+1272del	NM_004768.3:c.800+1272dup	NM_004768.3:c.800+1271_800+1272dup	NM_004768.3:c.800+1270_800+1272dup	NM_004768.3:c.800+1269_800+1272dup	NM_004768.3:c.800+1268_800+1272dup	NM_004768.3:c.800+1267_800+1272dup	NM_004768.3:c.800+1266_800+1272dup	NM_004768.3:c.800+1265_800+1272dup	NM_004768.3:c.800+1272_800+1273insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SRSF11 transcript variant 1	NM_004768.5:c.800+1251=	NM_004768.5:c.800+1265_800+1272del	NM_004768.5:c.800+1266_800+1272del	NM_004768.5:c.800+1268_800+1272del	NM_004768.5:c.800+1269_800+1272del	NM_004768.5:c.800+1270_800+1272del	NM_004768.5:c.800+1271_800+1272del	NM_004768.5:c.800+1272del	NM_004768.5:c.800+1272dup	NM_004768.5:c.800+1271_800+1272dup	NM_004768.5:c.800+1270_800+1272dup	NM_004768.5:c.800+1269_800+1272dup	NM_004768.5:c.800+1268_800+1272dup	NM_004768.5:c.800+1267_800+1272dup	NM_004768.5:c.800+1266_800+1272dup	NM_004768.5:c.800+1265_800+1272dup	NM_004768.5:c.800+1272_800+1273insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SRSF11 transcript variant X1	XM_005271338.1:c.800+1251=	XM_005271338.1:c.800+1265_800+1272del	XM_005271338.1:c.800+1266_800+1272del	XM_005271338.1:c.800+1268_800+1272del	XM_005271338.1:c.800+1269_800+1272del	XM_005271338.1:c.800+1270_800+1272del	XM_005271338.1:c.800+1271_800+1272del	XM_005271338.1:c.800+1272del	XM_005271338.1:c.800+1272dup	XM_005271338.1:c.800+1271_800+1272dup	XM_005271338.1:c.800+1270_800+1272dup	XM_005271338.1:c.800+1269_800+1272dup	XM_005271338.1:c.800+1268_800+1272dup	XM_005271338.1:c.800+1267_800+1272dup	XM_005271338.1:c.800+1266_800+1272dup	XM_005271338.1:c.800+1265_800+1272dup	XM_005271338.1:c.800+1272_800+1273insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SRSF11 transcript variant X2	XM_005271339.1:c.800+1251=	XM_005271339.1:c.800+1265_800+1272del	XM_005271339.1:c.800+1266_800+1272del	XM_005271339.1:c.800+1268_800+1272del	XM_005271339.1:c.800+1269_800+1272del	XM_005271339.1:c.800+1270_800+1272del	XM_005271339.1:c.800+1271_800+1272del	XM_005271339.1:c.800+1272del	XM_005271339.1:c.800+1272dup	XM_005271339.1:c.800+1271_800+1272dup	XM_005271339.1:c.800+1270_800+1272dup	XM_005271339.1:c.800+1269_800+1272dup	XM_005271339.1:c.800+1268_800+1272dup	XM_005271339.1:c.800+1267_800+1272dup	XM_005271339.1:c.800+1266_800+1272dup	XM_005271339.1:c.800+1265_800+1272dup	XM_005271339.1:c.800+1272_800+1273insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SRSF11 transcript variant X3	XM_005271340.1:c.800+1251=	XM_005271340.1:c.800+1265_800+1272del	XM_005271340.1:c.800+1266_800+1272del	XM_005271340.1:c.800+1268_800+1272del	XM_005271340.1:c.800+1269_800+1272del	XM_005271340.1:c.800+1270_800+1272del	XM_005271340.1:c.800+1271_800+1272del	XM_005271340.1:c.800+1272del	XM_005271340.1:c.800+1272dup	XM_005271340.1:c.800+1271_800+1272dup	XM_005271340.1:c.800+1270_800+1272dup	XM_005271340.1:c.800+1269_800+1272dup	XM_005271340.1:c.800+1268_800+1272dup	XM_005271340.1:c.800+1267_800+1272dup	XM_005271340.1:c.800+1266_800+1272dup	XM_005271340.1:c.800+1265_800+1272dup	XM_005271340.1:c.800+1272_800+1273insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SRSF11 transcript variant X4	XM_005271341.1:c.800+1251=	XM_005271341.1:c.800+1265_800+1272del	XM_005271341.1:c.800+1266_800+1272del	XM_005271341.1:c.800+1268_800+1272del	XM_005271341.1:c.800+1269_800+1272del	XM_005271341.1:c.800+1270_800+1272del	XM_005271341.1:c.800+1271_800+1272del	XM_005271341.1:c.800+1272del	XM_005271341.1:c.800+1272dup	XM_005271341.1:c.800+1271_800+1272dup	XM_005271341.1:c.800+1270_800+1272dup	XM_005271341.1:c.800+1269_800+1272dup	XM_005271341.1:c.800+1268_800+1272dup	XM_005271341.1:c.800+1267_800+1272dup	XM_005271341.1:c.800+1266_800+1272dup	XM_005271341.1:c.800+1265_800+1272dup	XM_005271341.1:c.800+1272_800+1273insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SRSF11 transcript variant X5	XM_005271342.1:c.620+1251=	XM_005271342.1:c.620+1265_620+1272del	XM_005271342.1:c.620+1266_620+1272del	XM_005271342.1:c.620+1268_620+1272del	XM_005271342.1:c.620+1269_620+1272del	XM_005271342.1:c.620+1270_620+1272del	XM_005271342.1:c.620+1271_620+1272del	XM_005271342.1:c.620+1272del	XM_005271342.1:c.620+1272dup	XM_005271342.1:c.620+1271_620+1272dup	XM_005271342.1:c.620+1270_620+1272dup	XM_005271342.1:c.620+1269_620+1272dup	XM_005271342.1:c.620+1268_620+1272dup	XM_005271342.1:c.620+1267_620+1272dup	XM_005271342.1:c.620+1266_620+1272dup	XM_005271342.1:c.620+1265_620+1272dup	XM_005271342.1:c.620+1272_620+1273insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SRSF11 transcript variant X6	XM_005271343.1:c.620+1251=	XM_005271343.1:c.620+1265_620+1272del	XM_005271343.1:c.620+1266_620+1272del	XM_005271343.1:c.620+1268_620+1272del	XM_005271343.1:c.620+1269_620+1272del	XM_005271343.1:c.620+1270_620+1272del	XM_005271343.1:c.620+1271_620+1272del	XM_005271343.1:c.620+1272del	XM_005271343.1:c.620+1272dup	XM_005271343.1:c.620+1271_620+1272dup	XM_005271343.1:c.620+1270_620+1272dup	XM_005271343.1:c.620+1269_620+1272dup	XM_005271343.1:c.620+1268_620+1272dup	XM_005271343.1:c.620+1267_620+1272dup	XM_005271343.1:c.620+1266_620+1272dup	XM_005271343.1:c.620+1265_620+1272dup	XM_005271343.1:c.620+1272_620+1273insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SRSF11 transcript variant X7	XM_005271344.1:c.620+1251=	XM_005271344.1:c.620+1265_620+1272del	XM_005271344.1:c.620+1266_620+1272del	XM_005271344.1:c.620+1268_620+1272del	XM_005271344.1:c.620+1269_620+1272del	XM_005271344.1:c.620+1270_620+1272del	XM_005271344.1:c.620+1271_620+1272del	XM_005271344.1:c.620+1272del	XM_005271344.1:c.620+1272dup	XM_005271344.1:c.620+1271_620+1272dup	XM_005271344.1:c.620+1270_620+1272dup	XM_005271344.1:c.620+1269_620+1272dup	XM_005271344.1:c.620+1268_620+1272dup	XM_005271344.1:c.620+1267_620+1272dup	XM_005271344.1:c.620+1266_620+1272dup	XM_005271344.1:c.620+1265_620+1272dup	XM_005271344.1:c.620+1272_620+1273insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SRSF11 transcript variant X8	XM_005271345.1:c.230+1251=	XM_005271345.1:c.230+1265_230+1272del	XM_005271345.1:c.230+1266_230+1272del	XM_005271345.1:c.230+1268_230+1272del	XM_005271345.1:c.230+1269_230+1272del	XM_005271345.1:c.230+1270_230+1272del	XM_005271345.1:c.230+1271_230+1272del	XM_005271345.1:c.230+1272del	XM_005271345.1:c.230+1272dup	XM_005271345.1:c.230+1271_230+1272dup	XM_005271345.1:c.230+1270_230+1272dup	XM_005271345.1:c.230+1269_230+1272dup	XM_005271345.1:c.230+1268_230+1272dup	XM_005271345.1:c.230+1267_230+1272dup	XM_005271345.1:c.230+1266_230+1272dup	XM_005271345.1:c.230+1265_230+1272dup	XM_005271345.1:c.230+1272_230+1273insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SRSF11 transcript variant X9	XM_005271346.1:c.230+1251=	XM_005271346.1:c.230+1265_230+1272del	XM_005271346.1:c.230+1266_230+1272del	XM_005271346.1:c.230+1268_230+1272del	XM_005271346.1:c.230+1269_230+1272del	XM_005271346.1:c.230+1270_230+1272del	XM_005271346.1:c.230+1271_230+1272del	XM_005271346.1:c.230+1272del	XM_005271346.1:c.230+1272dup	XM_005271346.1:c.230+1271_230+1272dup	XM_005271346.1:c.230+1270_230+1272dup	XM_005271346.1:c.230+1269_230+1272dup	XM_005271346.1:c.230+1268_230+1272dup	XM_005271346.1:c.230+1267_230+1272dup	XM_005271346.1:c.230+1266_230+1272dup	XM_005271346.1:c.230+1265_230+1272dup	XM_005271346.1:c.230+1272_230+1273insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SRSF11 transcript variant X8	XM_024450906.2:c.620+1251=	XM_024450906.2:c.620+1265_620+1272del	XM_024450906.2:c.620+1266_620+1272del	XM_024450906.2:c.620+1268_620+1272del	XM_024450906.2:c.620+1269_620+1272del	XM_024450906.2:c.620+1270_620+1272del	XM_024450906.2:c.620+1271_620+1272del	XM_024450906.2:c.620+1272del	XM_024450906.2:c.620+1272dup	XM_024450906.2:c.620+1271_620+1272dup	XM_024450906.2:c.620+1270_620+1272dup	XM_024450906.2:c.620+1269_620+1272dup	XM_024450906.2:c.620+1268_620+1272dup	XM_024450906.2:c.620+1267_620+1272dup	XM_024450906.2:c.620+1266_620+1272dup	XM_024450906.2:c.620+1265_620+1272dup	XM_024450906.2:c.620+1272_620+1273insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SRSF11 transcript variant X1	XM_047434514.1:c.800+1251=	XM_047434514.1:c.800+1265_800+1272del	XM_047434514.1:c.800+1266_800+1272del	XM_047434514.1:c.800+1268_800+1272del	XM_047434514.1:c.800+1269_800+1272del	XM_047434514.1:c.800+1270_800+1272del	XM_047434514.1:c.800+1271_800+1272del	XM_047434514.1:c.800+1272del	XM_047434514.1:c.800+1272dup	XM_047434514.1:c.800+1271_800+1272dup	XM_047434514.1:c.800+1270_800+1272dup	XM_047434514.1:c.800+1269_800+1272dup	XM_047434514.1:c.800+1268_800+1272dup	XM_047434514.1:c.800+1267_800+1272dup	XM_047434514.1:c.800+1266_800+1272dup	XM_047434514.1:c.800+1265_800+1272dup	XM_047434514.1:c.800+1272_800+1273insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SRSF11 transcript variant X2	XM_047434516.1:c.800+1251=	XM_047434516.1:c.800+1265_800+1272del	XM_047434516.1:c.800+1266_800+1272del	XM_047434516.1:c.800+1268_800+1272del	XM_047434516.1:c.800+1269_800+1272del	XM_047434516.1:c.800+1270_800+1272del	XM_047434516.1:c.800+1271_800+1272del	XM_047434516.1:c.800+1272del	XM_047434516.1:c.800+1272dup	XM_047434516.1:c.800+1271_800+1272dup	XM_047434516.1:c.800+1270_800+1272dup	XM_047434516.1:c.800+1269_800+1272dup	XM_047434516.1:c.800+1268_800+1272dup	XM_047434516.1:c.800+1267_800+1272dup	XM_047434516.1:c.800+1266_800+1272dup	XM_047434516.1:c.800+1265_800+1272dup	XM_047434516.1:c.800+1272_800+1273insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SRSF11 transcript variant X3	XM_047434517.1:c.800+1251=	XM_047434517.1:c.800+1265_800+1272del	XM_047434517.1:c.800+1266_800+1272del	XM_047434517.1:c.800+1268_800+1272del	XM_047434517.1:c.800+1269_800+1272del	XM_047434517.1:c.800+1270_800+1272del	XM_047434517.1:c.800+1271_800+1272del	XM_047434517.1:c.800+1272del	XM_047434517.1:c.800+1272dup	XM_047434517.1:c.800+1271_800+1272dup	XM_047434517.1:c.800+1270_800+1272dup	XM_047434517.1:c.800+1269_800+1272dup	XM_047434517.1:c.800+1268_800+1272dup	XM_047434517.1:c.800+1267_800+1272dup	XM_047434517.1:c.800+1266_800+1272dup	XM_047434517.1:c.800+1265_800+1272dup	XM_047434517.1:c.800+1272_800+1273insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SRSF11 transcript variant X4	XM_047434518.1:c.800+1251=	XM_047434518.1:c.800+1265_800+1272del	XM_047434518.1:c.800+1266_800+1272del	XM_047434518.1:c.800+1268_800+1272del	XM_047434518.1:c.800+1269_800+1272del	XM_047434518.1:c.800+1270_800+1272del	XM_047434518.1:c.800+1271_800+1272del	XM_047434518.1:c.800+1272del	XM_047434518.1:c.800+1272dup	XM_047434518.1:c.800+1271_800+1272dup	XM_047434518.1:c.800+1270_800+1272dup	XM_047434518.1:c.800+1269_800+1272dup	XM_047434518.1:c.800+1268_800+1272dup	XM_047434518.1:c.800+1267_800+1272dup	XM_047434518.1:c.800+1266_800+1272dup	XM_047434518.1:c.800+1265_800+1272dup	XM_047434518.1:c.800+1272_800+1273insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SRSF11 transcript variant X5	XM_047434522.1:c.800+1251=	XM_047434522.1:c.800+1265_800+1272del	XM_047434522.1:c.800+1266_800+1272del	XM_047434522.1:c.800+1268_800+1272del	XM_047434522.1:c.800+1269_800+1272del	XM_047434522.1:c.800+1270_800+1272del	XM_047434522.1:c.800+1271_800+1272del	XM_047434522.1:c.800+1272del	XM_047434522.1:c.800+1272dup	XM_047434522.1:c.800+1271_800+1272dup	XM_047434522.1:c.800+1270_800+1272dup	XM_047434522.1:c.800+1269_800+1272dup	XM_047434522.1:c.800+1268_800+1272dup	XM_047434522.1:c.800+1267_800+1272dup	XM_047434522.1:c.800+1266_800+1272dup	XM_047434522.1:c.800+1265_800+1272dup	XM_047434522.1:c.800+1272_800+1273insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SRSF11 transcript variant X6	XM_047434523.1:c.800+1251=	XM_047434523.1:c.800+1265_800+1272del	XM_047434523.1:c.800+1266_800+1272del	XM_047434523.1:c.800+1268_800+1272del	XM_047434523.1:c.800+1269_800+1272del	XM_047434523.1:c.800+1270_800+1272del	XM_047434523.1:c.800+1271_800+1272del	XM_047434523.1:c.800+1272del	XM_047434523.1:c.800+1272dup	XM_047434523.1:c.800+1271_800+1272dup	XM_047434523.1:c.800+1270_800+1272dup	XM_047434523.1:c.800+1269_800+1272dup	XM_047434523.1:c.800+1268_800+1272dup	XM_047434523.1:c.800+1267_800+1272dup	XM_047434523.1:c.800+1266_800+1272dup	XM_047434523.1:c.800+1265_800+1272dup	XM_047434523.1:c.800+1272_800+1273insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SRSF11 transcript variant X7	XM_047434524.1:c.800+1251=	XM_047434524.1:c.800+1265_800+1272del	XM_047434524.1:c.800+1266_800+1272del	XM_047434524.1:c.800+1268_800+1272del	XM_047434524.1:c.800+1269_800+1272del	XM_047434524.1:c.800+1270_800+1272del	XM_047434524.1:c.800+1271_800+1272del	XM_047434524.1:c.800+1272del	XM_047434524.1:c.800+1272dup	XM_047434524.1:c.800+1271_800+1272dup	XM_047434524.1:c.800+1270_800+1272dup	XM_047434524.1:c.800+1269_800+1272dup	XM_047434524.1:c.800+1268_800+1272dup	XM_047434524.1:c.800+1267_800+1272dup	XM_047434524.1:c.800+1266_800+1272dup	XM_047434524.1:c.800+1265_800+1272dup	XM_047434524.1:c.800+1272_800+1273insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SRSF11 transcript variant X9	XM_047434536.1:c.620+1251=	XM_047434536.1:c.620+1265_620+1272del	XM_047434536.1:c.620+1266_620+1272del	XM_047434536.1:c.620+1268_620+1272del	XM_047434536.1:c.620+1269_620+1272del	XM_047434536.1:c.620+1270_620+1272del	XM_047434536.1:c.620+1271_620+1272del	XM_047434536.1:c.620+1272del	XM_047434536.1:c.620+1272dup	XM_047434536.1:c.620+1271_620+1272dup	XM_047434536.1:c.620+1270_620+1272dup	XM_047434536.1:c.620+1269_620+1272dup	XM_047434536.1:c.620+1268_620+1272dup	XM_047434536.1:c.620+1267_620+1272dup	XM_047434536.1:c.620+1266_620+1272dup	XM_047434536.1:c.620+1265_620+1272dup	XM_047434536.1:c.620+1272_620+1273insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SRSF11 transcript variant X10	XM_047434541.1:c.800+1251=	XM_047434541.1:c.800+1265_800+1272del	XM_047434541.1:c.800+1266_800+1272del	XM_047434541.1:c.800+1268_800+1272del	XM_047434541.1:c.800+1269_800+1272del	XM_047434541.1:c.800+1270_800+1272del	XM_047434541.1:c.800+1271_800+1272del	XM_047434541.1:c.800+1272del	XM_047434541.1:c.800+1272dup	XM_047434541.1:c.800+1271_800+1272dup	XM_047434541.1:c.800+1270_800+1272dup	XM_047434541.1:c.800+1269_800+1272dup	XM_047434541.1:c.800+1268_800+1272dup	XM_047434541.1:c.800+1267_800+1272dup	XM_047434541.1:c.800+1266_800+1272dup	XM_047434541.1:c.800+1265_800+1272dup	XM_047434541.1:c.800+1272_800+1273insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

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#.

37 SubSNP, 29 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	PJP	ss294584603	May 09, 2011 (136)
2	SWEGEN	ss2986984414	Nov 08, 2017 (151)
3	MCHAISSO	ss3063592537	Nov 08, 2017 (151)
4	MCHAISSO	ss3064406496	Nov 08, 2017 (151)
5	ACPOP	ss3727139315	Jul 12, 2019 (153)
6	ACPOP	ss3727139316	Jul 12, 2019 (153)
7	ACPOP	ss3727139317	Jul 12, 2019 (153)
8	EVA	ss3826226217	Apr 25, 2020 (154)
9	GNOMAD	ss3995487233	Apr 25, 2021 (155)
10	GNOMAD	ss3995487234	Apr 25, 2021 (155)
11	GNOMAD	ss3995487235	Apr 25, 2021 (155)
12	GNOMAD	ss3995487236	Apr 25, 2021 (155)
13	GNOMAD	ss3995487237	Apr 25, 2021 (155)
14	GNOMAD	ss3995487238	Apr 25, 2021 (155)
15	GNOMAD	ss3995487239	Apr 25, 2021 (155)
16	GNOMAD	ss3995487240	Apr 25, 2021 (155)
17	GNOMAD	ss3995487241	Apr 25, 2021 (155)
18	GNOMAD	ss3995487242	Apr 25, 2021 (155)
19	GNOMAD	ss3995487243	Apr 25, 2021 (155)
20	GNOMAD	ss3995487244	Apr 25, 2021 (155)
21	GNOMAD	ss3995487245	Apr 25, 2021 (155)
22	TOMMO_GENOMICS	ss5144420022	Apr 25, 2021 (155)
23	TOMMO_GENOMICS	ss5144420023	Apr 25, 2021 (155)
24	TOMMO_GENOMICS	ss5144420024	Apr 25, 2021 (155)
25	TOMMO_GENOMICS	ss5144420025	Apr 25, 2021 (155)
26	TOMMO_GENOMICS	ss5144420026	Apr 25, 2021 (155)
27	TOMMO_GENOMICS	ss5144420027	Apr 25, 2021 (155)
28	HUGCELL_USP	ss5443661196	Oct 12, 2022 (156)
29	HUGCELL_USP	ss5443661197	Oct 12, 2022 (156)
30	HUGCELL_USP	ss5443661198	Oct 12, 2022 (156)
31	TOMMO_GENOMICS	ss5669326437	Oct 12, 2022 (156)
32	TOMMO_GENOMICS	ss5669326438	Oct 12, 2022 (156)
33	TOMMO_GENOMICS	ss5669326439	Oct 12, 2022 (156)
34	TOMMO_GENOMICS	ss5669326440	Oct 12, 2022 (156)
35	TOMMO_GENOMICS	ss5669326441	Oct 12, 2022 (156)
36	TOMMO_GENOMICS	ss5669326442	Oct 12, 2022 (156)
37	EVA	ss5848950898	Oct 12, 2022 (156)
38	gnomAD - Genomes Submission ignored due to conflicting rows: Row 14441501 (NC_000001.11:70240770::T 3224/101146) Row 14441502 (NC_000001.11:70240770::TT 1251/101030) Row 14441503 (NC_000001.11:70240770::TTT 182/101168)...	-	Apr 25, 2021 (155)
39	gnomAD - Genomes Submission ignored due to conflicting rows: Row 14441501 (NC_000001.11:70240770::T 3224/101146) Row 14441502 (NC_000001.11:70240770::TT 1251/101030) Row 14441503 (NC_000001.11:70240770::TTT 182/101168)...	-	Apr 25, 2021 (155)
40	gnomAD - Genomes Submission ignored due to conflicting rows: Row 14441501 (NC_000001.11:70240770::T 3224/101146) Row 14441502 (NC_000001.11:70240770::TT 1251/101030) Row 14441503 (NC_000001.11:70240770::TTT 182/101168)...	-	Apr 25, 2021 (155)
41	gnomAD - Genomes Submission ignored due to conflicting rows: Row 14441501 (NC_000001.11:70240770::T 3224/101146) Row 14441502 (NC_000001.11:70240770::TT 1251/101030) Row 14441503 (NC_000001.11:70240770::TTT 182/101168)...	-	Apr 25, 2021 (155)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 14441501 (NC_000001.11:70240770::T 3224/101146) Row 14441502 (NC_000001.11:70240770::TT 1251/101030) Row 14441503 (NC_000001.11:70240770::TTT 182/101168)...	-	Apr 25, 2021 (155)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 14441501 (NC_000001.11:70240770::T 3224/101146) Row 14441502 (NC_000001.11:70240770::TT 1251/101030) Row 14441503 (NC_000001.11:70240770::TTT 182/101168)...	-	Apr 25, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 14441501 (NC_000001.11:70240770::T 3224/101146) Row 14441502 (NC_000001.11:70240770::TT 1251/101030) Row 14441503 (NC_000001.11:70240770::TTT 182/101168)...	-	Apr 25, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 14441501 (NC_000001.11:70240770::T 3224/101146) Row 14441502 (NC_000001.11:70240770::TT 1251/101030) Row 14441503 (NC_000001.11:70240770::TTT 182/101168)...	-	Apr 25, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 14441501 (NC_000001.11:70240770::T 3224/101146) Row 14441502 (NC_000001.11:70240770::TT 1251/101030) Row 14441503 (NC_000001.11:70240770::TTT 182/101168)...	-	Apr 25, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 14441501 (NC_000001.11:70240770::T 3224/101146) Row 14441502 (NC_000001.11:70240770::TT 1251/101030) Row 14441503 (NC_000001.11:70240770::TTT 182/101168)...	-	Apr 25, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 14441501 (NC_000001.11:70240770::T 3224/101146) Row 14441502 (NC_000001.11:70240770::TT 1251/101030) Row 14441503 (NC_000001.11:70240770::TTT 182/101168)...	-	Apr 25, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 14441501 (NC_000001.11:70240770::T 3224/101146) Row 14441502 (NC_000001.11:70240770::TT 1251/101030) Row 14441503 (NC_000001.11:70240770::TTT 182/101168)...	-	Apr 25, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 14441501 (NC_000001.11:70240770::T 3224/101146) Row 14441502 (NC_000001.11:70240770::TT 1251/101030) Row 14441503 (NC_000001.11:70240770::TTT 182/101168)...	-	Apr 25, 2021 (155)
51	Northern Sweden Submission ignored due to conflicting rows: Row 424180 (NC_000001.10:70706453::TTTTTT 4/588) Row 424181 (NC_000001.10:70706453::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 2/588) Row 424182 (NC_000001.10:70706453::TTTTTTT 4/588)	-	Jul 12, 2019 (153)
52	Northern Sweden Submission ignored due to conflicting rows: Row 424180 (NC_000001.10:70706453::TTTTTT 4/588) Row 424181 (NC_000001.10:70706453::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 2/588) Row 424182 (NC_000001.10:70706453::TTTTTTT 4/588)	-	Jul 12, 2019 (153)
53	Northern Sweden Submission ignored due to conflicting rows: Row 424180 (NC_000001.10:70706453::TTTTTT 4/588) Row 424181 (NC_000001.10:70706453::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 2/588) Row 424182 (NC_000001.10:70706453::TTTTTTT 4/588)	-	Jul 12, 2019 (153)
54	8.3KJPN Submission ignored due to conflicting rows: Row 2389329 (NC_000001.10:70706453:T: 2929/16668) Row 2389330 (NC_000001.10:70706453::T 439/16668) Row 2389331 (NC_000001.10:70706453::TT 925/16668)...	-	Apr 25, 2021 (155)
55	8.3KJPN Submission ignored due to conflicting rows: Row 2389329 (NC_000001.10:70706453:T: 2929/16668) Row 2389330 (NC_000001.10:70706453::T 439/16668) Row 2389331 (NC_000001.10:70706453::TT 925/16668)...	-	Apr 25, 2021 (155)
56	8.3KJPN Submission ignored due to conflicting rows: Row 2389329 (NC_000001.10:70706453:T: 2929/16668) Row 2389330 (NC_000001.10:70706453::T 439/16668) Row 2389331 (NC_000001.10:70706453::TT 925/16668)...	-	Apr 25, 2021 (155)
57	8.3KJPN Submission ignored due to conflicting rows: Row 2389329 (NC_000001.10:70706453:T: 2929/16668) Row 2389330 (NC_000001.10:70706453::T 439/16668) Row 2389331 (NC_000001.10:70706453::TT 925/16668)...	-	Apr 25, 2021 (155)
58	8.3KJPN Submission ignored due to conflicting rows: Row 2389329 (NC_000001.10:70706453:T: 2929/16668) Row 2389330 (NC_000001.10:70706453::T 439/16668) Row 2389331 (NC_000001.10:70706453::TT 925/16668)...	-	Apr 25, 2021 (155)
59	8.3KJPN Submission ignored due to conflicting rows: Row 2389329 (NC_000001.10:70706453:T: 2929/16668) Row 2389330 (NC_000001.10:70706453::T 439/16668) Row 2389331 (NC_000001.10:70706453::TT 925/16668)...	-	Apr 25, 2021 (155)
60	14KJPN Submission ignored due to conflicting rows: Row 3163541 (NC_000001.11:70240770:T: 5796/28080) Row 3163542 (NC_000001.11:70240770::TT 1469/28080) Row 3163543 (NC_000001.11:70240770::T 776/28080)...	-	Oct 12, 2022 (156)
61	14KJPN Submission ignored due to conflicting rows: Row 3163541 (NC_000001.11:70240770:T: 5796/28080) Row 3163542 (NC_000001.11:70240770::TT 1469/28080) Row 3163543 (NC_000001.11:70240770::T 776/28080)...	-	Oct 12, 2022 (156)
62	14KJPN Submission ignored due to conflicting rows: Row 3163541 (NC_000001.11:70240770:T: 5796/28080) Row 3163542 (NC_000001.11:70240770::TT 1469/28080) Row 3163543 (NC_000001.11:70240770::T 776/28080)...	-	Oct 12, 2022 (156)
63	14KJPN Submission ignored due to conflicting rows: Row 3163541 (NC_000001.11:70240770:T: 5796/28080) Row 3163542 (NC_000001.11:70240770::TT 1469/28080) Row 3163543 (NC_000001.11:70240770::T 776/28080)...	-	Oct 12, 2022 (156)
64	14KJPN Submission ignored due to conflicting rows: Row 3163541 (NC_000001.11:70240770:T: 5796/28080) Row 3163542 (NC_000001.11:70240770::TT 1469/28080) Row 3163543 (NC_000001.11:70240770::T 776/28080)...	-	Oct 12, 2022 (156)
65	14KJPN Submission ignored due to conflicting rows: Row 3163541 (NC_000001.11:70240770:T: 5796/28080) Row 3163542 (NC_000001.11:70240770::TT 1469/28080) Row 3163543 (NC_000001.11:70240770::T 776/28080)...	-	Oct 12, 2022 (156)
66	ALFA	NC_000001.11 - 70240771	Apr 25, 2021 (155)

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)
rs143370262	Oct 18, 2011 (136)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss3995487245	NC_000001.11:70240770:TTTTTTTT:	NC_000001.11:70240770:TTTTTTTTTTTT… NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
5931210025	NC_000001.11:70240770:TTTTTTTTTTTT… NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000001.11:70240770:TTTTTTTTTTTT… NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss3995487244	NC_000001.11:70240770:TTTTTTT:	NC_000001.11:70240770:TTTTTTTTTTTT… NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
5931210025	NC_000001.11:70240770:TTTTTTTTTTTT… NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000001.11:70240770:TTTTTTTTTTTT… NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
5931210025	NC_000001.11:70240770:TTTTTTTTTTTT… NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000001.11:70240770:TTTTTTTTTTTT… NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
5931210025	NC_000001.11:70240770:TTTTTTTTTTTT… NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000001.11:70240770:TTTTTTTTTTTT… NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss3995487243	NC_000001.11:70240770:TTT:	NC_000001.11:70240770:TTTTTTTTTTTT… NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
5931210025	NC_000001.11:70240770:TTTTTTTTTTTT… NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000001.11:70240770:TTTTTTTTTTTT… NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss5144420026	NC_000001.10:70706453:TT:	NC_000001.11:70240770:TTTTTTTTTTTT… NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss3995487242, ss5669326441	NC_000001.11:70240770:TT:	NC_000001.11:70240770:TTTTTTTTTTTT… NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
5931210025	NC_000001.11:70240770:TTTTTTTTTTTT… NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	NC_000001.11:70240770:TTTTTTTTTTTT… NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss2986984414, ss5144420022	NC_000001.10:70706453:T:	NC_000001.11:70240770:TTTTTTTTTTTT… NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss3995487241, ss5443661196, ss5669326437	NC_000001.11:70240770:T:	NC_000001.11:70240770:TTTTTTTTTTTT… NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
5931210025	NC_000001.11:70240770:TTTTTTTTTTTT… NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	NC_000001.11:70240770:TTTTTTTTTTTT… NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss294584603	NC_000001.9:70479042::T	NC_000001.11:70240770:TTTTTTTTTTTT… NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3826226217, ss5144420023	NC_000001.10:70706453::T	NC_000001.11:70240770:TTTTTTTTTTTT… NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3995487233, ss5443661197, ss5669326439	NC_000001.11:70240770::T	NC_000001.11:70240770:TTTTTTTTTTTT… NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
5931210025	NC_000001.11:70240770:TTTTTTTTTTTT… NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	NC_000001.11:70240770:TTTTTTTTTTTT… NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss5144420024	NC_000001.10:70706453::TT	NC_000001.11:70240770:TTTTTTTTTTTT… NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3063592537, ss3064406496, ss3995487234, ss5443661198, ss5669326438	NC_000001.11:70240770::TT	NC_000001.11:70240770:TTTTTTTTTTTT… NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
5931210025	NC_000001.11:70240770:TTTTTTTTTTTT… NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	NC_000001.11:70240770:TTTTTTTTTTTT… NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss5144420025	NC_000001.10:70706453::TTT	NC_000001.11:70240770:TTTTTTTTTTTT… NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3995487235, ss5669326440, ss5848950898	NC_000001.11:70240770::TTT	NC_000001.11:70240770:TTTTTTTTTTTT… NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
5931210025	NC_000001.11:70240770:TTTTTTTTTTTT… NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	NC_000001.11:70240770:TTTTTTTTTTTT… NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss5144420027	NC_000001.10:70706453::TTTT	NC_000001.11:70240770:TTTTTTTTTTTT… NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3995487236, ss5669326442	NC_000001.11:70240770::TTTT	NC_000001.11:70240770:TTTTTTTTTTTT… NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
5931210025	NC_000001.11:70240770:TTTTTTTTTTTT… NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000001.11:70240770:TTTTTTTTTTTT… NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3995487237	NC_000001.11:70240770::TTTTT	NC_000001.11:70240770:TTTTTTTTTTTT… NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
5931210025	NC_000001.11:70240770:TTTTTTTTTTTT… NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000001.11:70240770:TTTTTTTTTTTT… NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3727139315	NC_000001.10:70706453::TTTTTT	NC_000001.11:70240770:TTTTTTTTTTTT… NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3995487238	NC_000001.11:70240770::TTTTTT	NC_000001.11:70240770:TTTTTTTTTTTT… NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
5931210025	NC_000001.11:70240770:TTTTTTTTTTTT… NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000001.11:70240770:TTTTTTTTTTTT… NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3727139317	NC_000001.10:70706453::TTTTTTT	NC_000001.11:70240770:TTTTTTTTTTTT… NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3995487239	NC_000001.11:70240770::TTTTTTT	NC_000001.11:70240770:TTTTTTTTTTTT… NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
5931210025	NC_000001.11:70240770:TTTTTTTTTTTT… NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000001.11:70240770:TTTTTTTTTTTT… NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3995487240	NC_000001.11:70240770::TTTTTTTT	NC_000001.11:70240770:TTTTTTTTTTTT… NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3727139316	NC_000001.10:70706453::TTTTTTTTTTT… NC_000001.10:70706453::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000001.11:70240770:TTTTTTTTTTTT… NC_000001.11:70240770:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)

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

No publications for rs72113966

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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs72113966