Canonical Allele Identifier: CA19640479

Gene: ARID1A

Linked Data

• ClinVar Variation Id: 434330
• ClinVar RCV Id: RCV000500144 ; RCV002527199 ; RCV003915363
• dbSNP Id: rs1015322780
• gnomAD v2: 1-27023140-T-TGGCGGC
• gnomAD v3: 1-26696649-T-TGGCGGC
• gnomAD v4: 1-26696649-T-TGGCGGC
• MyVariant Identifiers: chr1:g.27023149_27023154dup (hg19) ; chr1:g.27023155_27023158delinsCGGCGGAGCC (hg19) ; chr1:g.27023140_27023141insGGCGGC (hg19) ; chr1:g.26696658_26696663dup (hg38) ; chr1:g.26696664_26696667delinsCGGCGGAGCC (hg38) ; chr1:g.26696649_26696650insGGCGGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26696658_26696663dup , CM000663.2:g.26696658_26696663dup	GRCh38
NC_000001.10:g.27023149_27023154dup , CM000663.1:g.27023149_27023154dup	GRCh37
NC_000001.9:g.26895736_26895741dup	NCBI36
NG_029965.1:g.5628_5633dup , LRG_875:g.5628_5633dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000324856.13:c.255_260dup MANE Select	ENSP00000320485.7:p.Gly87_Ala88insGlyGly
ENST00000430799.7:c.-13+3041_-13+3046dup	ENSP00000390317.3:n.-13+3041_-13+3046dup
ENST00000637465.1:c.-13+558_-13+563dup	ENSP00000490650.1:n.-13+558_-13+563dup
ENST00000324856.11:c.255_260dup	ENSP00000320485.7:p.Gly87_Ala88insGlyGly
ENST00000457599.6:c.255_260dup	ENSP00000387636.2:p.Gly87_Ala88insGlyGly
NM_006015.4:c.255_260dup , LRG_875t1:c.255_260dup	NP_006006.3:p.Gly87_Ala88insGlyGly
NM_139135.2:c.255_260dup	NP_624361.1:p.Gly87_Ala88insGlyGly
NM_006015.5:c.255_260dup	NP_006006.3:p.Gly87_Ala88insGlyGly
NM_139135.3:c.255_260dup	NP_624361.1:p.Gly87_Ala88insGlyGly
NM_006015.6:c.255_260dup MANE Select	NP_006006.3:p.Gly87_Ala88insGlyGly
NM_139135.4:c.255_260dup	NP_624361.1:p.Gly87_Ala88insGlyGly