Canonical Allele Identifier: CA151020
Gene: ARID1A HGNC NCBI

Linked Data

ClinVar Variation Id: 126309
ClinVar RCV Id: RCV000114252 RCV000946455 RCV002259599
dbSNP Id: rs587779737
gnomAD v2: 1-27023007-A-AGGC
gnomAD v3: 1-26696516-A-AGGC
gnomAD v4: 1-26696516-A-AGGC
COSMIC: COSM4949888
MyVariant Identifiers: chr1:g.27023020_27023022dupGGC (hg19) chr1:g.27023013_27023014insGGC (hg19) chr1:g.27023010_27023011insGGC (hg19) chr1:g.27023007_27023008insGGC (hg19) chr1:g.26696529_26696531dupGGC (hg38) chr1:g.26696522_26696523insGGC (hg38) chr1:g.26696519_26696520insGGC (hg38) chr1:g.26696516_26696517insGGC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.26696529_26696531dup , CM000663.2:g.26696529_26696531dup GRCh38
NC_000001.10:g.27023020_27023022dup , CM000663.1:g.27023020_27023022dup GRCh37
NC_000001.9:g.26895607_26895609dup NCBI36
NG_029965.1:g.5499_5501dup , LRG_875:g.5499_5501dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000324856.13:c.126_128dup MANE Select ENSP00000320485.7:p.Ala43_Ala44insAla
ENST00000430799.7:c.-13+2912_-13+2914dup ENSP00000390317.3:n.-13+2912_-13+2914dup
ENST00000637465.1:c.-13+429_-13+431dup ENSP00000490650.1:n.-13+429_-13+431dup
ENST00000324856.11:c.126_128dup ENSP00000320485.7:p.Ala43_Ala44insAla
ENST00000457599.6:c.126_128dup ENSP00000387636.2:p.Ala43_Ala44insAla
NM_006015.4:c.126_128dup , LRG_875t1:c.126_128dup NP_006006.3:p.Ala43_Ala44insAla
NM_139135.2:c.126_128dup NP_624361.1:p.Ala43_Ala44insAla
NM_006015.5:c.126_128dup NP_006006.3:p.Ala43_Ala44insAla
NM_139135.3:c.126_128dup NP_624361.1:p.Ala43_Ala44insAla
NM_006015.6:c.126_128dup MANE Select NP_006006.3:p.Ala43_Ala44insAla
NM_139135.4:c.126_128dup NP_624361.1:p.Ala43_Ala44insAla
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Search 100 bp 3'