Canonical Allele Identifier: CA416988846

Gene: ARID1A

Linked Data

• ClinVar Variation Id: 591469
• ClinVar RCV Id: RCV000722648 ; RCV002535036 ; RCV003908017
• dbSNP Id: rs748085214
• gnomAD v2: 1-27022939-C-CCCGCCG
• gnomAD v3: 1-26696448-C-CCCGCCG
• gnomAD v4: 1-26696448-C-CCCGCCG
• COSMIC: COSM51480
• MyVariant Identifiers: chr1:g.27022945_27022946insCCGCCG (hg19) ; chr1:g.27022942_27022943insCCGCCG (hg19) ; chr1:g.27022939_27022940insCCGCCG (hg19) ; chr1:g.26696454_26696455insCCGCCG (hg38) ; chr1:g.26696451_26696452insCCGCCG (hg38) ; chr1:g.26696448_26696449insCCGCCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26696460_26696465dup , CM000663.2:g.26696460_26696465dup	GRCh38
NC_000001.10:g.27022951_27022956dup , CM000663.1:g.27022951_27022956dup	GRCh37
NC_000001.9:g.26895538_26895543dup	NCBI36
NG_029965.1:g.5430_5435dup , LRG_875:g.5430_5435dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324856.13:c.57_62dup MANE Select	ENSP00000320485.7:p.Pro21_Ser22insProPro
ENST00000430799.7:c.-13+2843_-13+2848dup	ENSP00000390317.3:n.-13+2843_-13+2848dup
ENST00000637465.1:c.-13+360_-13+365dup	ENSP00000490650.1:n.-13+360_-13+365dup
ENST00000324856.11:c.57_62dup	ENSP00000320485.7:p.Pro21_Ser22insProPro
ENST00000457599.6:c.57_62dup	ENSP00000387636.2:p.Pro21_Ser22insProPro
NM_006015.4:c.57_62dup , LRG_875t1:c.57_62dup	NP_006006.3:p.Pro21_Ser22insProPro
NM_139135.2:c.57_62dup	NP_624361.1:p.Pro21_Ser22insProPro
NM_006015.5:c.57_62dup	NP_006006.3:p.Pro21_Ser22insProPro
NM_139135.3:c.57_62dup	NP_624361.1:p.Pro21_Ser22insProPro
NM_006015.6:c.57_62dup MANE Select	NP_006006.3:p.Pro21_Ser22insProPro
NM_139135.4:c.57_62dup	NP_624361.1:p.Pro21_Ser22insProPro