Canonical Allele Identifier: CA208727

Gene: ARID1A

Linked Data

• ClinVar Variation Id: 210263
• ClinVar RCV Id: RCV000194517 ; RCV000727463 ; RCV003955138
• dbSNP Id: rs749970078
• ExAC: 1:27023620 C / CGCG
• gnomAD v2: 1-27023620-C-CGCG
• gnomAD v3: 1-26697129-C-CGCG
• gnomAD v4: 1-26697129-C-CGCG
• MyVariant Identifiers: chr1:g.27023629_27023631dupGGC (hg19) ; chr1:g.27023623_27023624insGCG (hg19) ; chr1:g.27023620_27023621insGCG (hg19) ; chr1:g.26697138_26697140dupGGC (hg38) ; chr1:g.26697132_26697133insGCG (hg38) ; chr1:g.26697129_26697130insGCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26697138_26697140dup , CM000663.2:g.26697138_26697140dup	GRCh38
NC_000001.10:g.27023629_27023631dup , CM000663.1:g.27023629_27023631dup	GRCh37
NC_000001.9:g.26896216_26896218dup	NCBI36
NG_029965.1:g.6108_6110dup , LRG_875:g.6108_6110dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324856.13:c.735_737dup MANE Select	ENSP00000320485.7:p.Ala246_Ala247insAla
ENST00000430799.7:c.-13+3521_-13+3523dup	ENSP00000390317.3:n.-13+3521_-13+3523dup
ENST00000637465.1:c.-13+1038_-13+1040dup	ENSP00000490650.1:n.-13+1038_-13+1040dup
ENST00000324856.11:c.735_737dup	ENSP00000320485.7:p.Ala246_Ala247insAla
ENST00000457599.6:c.735_737dup	ENSP00000387636.2:p.Ala246_Ala247insAla
NM_006015.4:c.735_737dup , LRG_875t1:c.735_737dup	NP_006006.3:p.Ala246_Ala247insAla
NM_139135.2:c.735_737dup	NP_624361.1:p.Ala246_Ala247insAla
NM_006015.5:c.735_737dup	NP_006006.3:p.Ala246_Ala247insAla
NM_139135.3:c.735_737dup	NP_624361.1:p.Ala246_Ala247insAla
NM_006015.6:c.735_737dup MANE Select	NP_006006.3:p.Ala246_Ala247insAla
NM_139135.4:c.735_737dup	NP_624361.1:p.Ala246_Ala247insAla