Canonical Allele Identifier: CA2574277635

Gene: ARID1A

Linked Data

• dbSNP Id: rs1191458952
• gnomAD v4: 1-26696664-A-AGCCGGCAGCGGCGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26696666_26696680dup , CM000663.2:g.26696666_26696680dup	GRCh38
NC_000001.10:g.27023157_27023171dup , CM000663.1:g.27023157_27023171dup	GRCh37
NC_000001.9:g.26895744_26895758dup	NCBI36
NG_029965.1:g.5636_5650dup , LRG_875:g.5636_5650dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324856.13:c.263_277dup MANE Select	ENSP00000320485.7:p.Gly92_Gly93insAlaGlySerGlyGly
ENST00000430799.7:c.-13+3049_-13+3063dup	ENSP00000390317.3:n.-13+3049_-13+3063dup
ENST00000637465.1:c.-13+566_-13+580dup	ENSP00000490650.1:n.-13+566_-13+580dup
ENST00000324856.11:c.263_277dup	ENSP00000320485.7:p.Gly92_Gly93insAlaGlySerGlyGly
ENST00000457599.6:c.263_277dup	ENSP00000387636.2:p.Gly92_Gly93insAlaGlySerGlyGly
NM_006015.4:c.263_277dup , LRG_875t1:c.263_277dup	NP_006006.3:p.Gly92_Gly93insAlaGlySerGlyGly
NM_139135.2:c.263_277dup	NP_624361.1:p.Gly92_Gly93insAlaGlySerGlyGly
NM_006015.5:c.263_277dup	NP_006006.3:p.Gly92_Gly93insAlaGlySerGlyGly
NM_139135.3:c.263_277dup	NP_624361.1:p.Gly92_Gly93insAlaGlySerGlyGly
NM_006015.6:c.263_277dup MANE Select	NP_006006.3:p.Gly92_Gly93insAlaGlySerGlyGly
NM_139135.4:c.263_277dup	NP_624361.1:p.Gly92_Gly93insAlaGlySerGlyGly