Canonical Allele Identifier: CA19640560

Gene: ARID1A

Linked Data

• ClinVar Variation Id: 1495992
• ClinVar RCV Id: RCV001991666
• dbSNP Id: rs951330386
• gnomAD v3: 1-26696765-C-CCGG
• gnomAD v4: 1-26696765-C-CCGG
• MyVariant Identifiers: chr1:g.27023256_27023257insCGG (hg19) ; chr1:g.26696765_26696766insCGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26696775_26696777dup , CM000663.2:g.26696775_26696777dup	GRCh38
NC_000001.10:g.27023266_27023268dup , CM000663.1:g.27023266_27023268dup	GRCh37
NC_000001.9:g.26895853_26895855dup	NCBI36
NG_029965.1:g.5745_5747dup , LRG_875:g.5745_5747dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324856.13:c.372_374dup MANE Select	ENSP00000320485.7:p.Gly125_Gly126insGly
ENST00000430799.7:c.-13+3158_-13+3160dup	ENSP00000390317.3:n.-13+3158_-13+3160dup
ENST00000637465.1:c.-13+675_-13+677dup	ENSP00000490650.1:n.-13+675_-13+677dup
ENST00000324856.11:c.372_374dup	ENSP00000320485.7:p.Gly125_Gly126insGly
ENST00000457599.6:c.372_374dup	ENSP00000387636.2:p.Gly125_Gly126insGly
NM_006015.4:c.372_374dup , LRG_875t1:c.372_374dup	NP_006006.3:p.Gly125_Gly126insGly
NM_139135.2:c.372_374dup	NP_624361.1:p.Gly125_Gly126insGly
NM_006015.5:c.372_374dup	NP_006006.3:p.Gly125_Gly126insGly
NM_139135.3:c.372_374dup	NP_624361.1:p.Gly125_Gly126insGly
NM_006015.6:c.372_374dup MANE Select	NP_006006.3:p.Gly125_Gly126insGly
NM_139135.4:c.372_374dup	NP_624361.1:p.Gly125_Gly126insGly