Canonical Allele Identifier: CA706587

Gene: ARID1A

Linked Data

• dbSNP Id: rs771144579
• ExAC: 1:27023270 G / GGCGGCA
• gnomAD v2: 1-27023270-G-GGCGGCA
• gnomAD v3: 1-26696779-G-GGCGGCA
• gnomAD v4: 1-26696779-G-GGCGGCA
• MyVariant Identifiers: chr1:g.27023270_27023271insGCGGCA (hg19) ; chr1:g.26696779_26696780insGCGGCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26696782_26696787dup , CM000663.2:g.26696782_26696787dup	GRCh38
NC_000001.10:g.27023273_27023278dup , CM000663.1:g.27023273_27023278dup	GRCh37
NC_000001.9:g.26895860_26895865dup	NCBI36
NG_029965.1:g.5752_5757dup , LRG_875:g.5752_5757dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324856.13:c.379_384dup MANE Select	ENSP00000320485.7:p.Ser128_Ser129insGlySer
ENST00000430799.7:c.-13+3165_-13+3170dup	ENSP00000390317.3:n.-13+3165_-13+3170dup
ENST00000637465.1:c.-13+682_-13+687dup	ENSP00000490650.1:n.-13+682_-13+687dup
ENST00000324856.11:c.379_384dup	ENSP00000320485.7:p.Ser128_Ser129insGlySer
ENST00000457599.6:c.379_384dup	ENSP00000387636.2:p.Ser128_Ser129insGlySer
NM_006015.4:c.379_384dup , LRG_875t1:c.379_384dup	NP_006006.3:p.Ser128_Ser129insGlySer
NM_139135.2:c.379_384dup	NP_624361.1:p.Ser128_Ser129insGlySer
NM_006015.5:c.379_384dup	NP_006006.3:p.Ser128_Ser129insGlySer
NM_139135.3:c.379_384dup	NP_624361.1:p.Ser128_Ser129insGlySer
NM_006015.6:c.379_384dup MANE Select	NP_006006.3:p.Ser128_Ser129insGlySer
NM_139135.4:c.379_384dup	NP_624361.1:p.Ser128_Ser129insGlySer