Canonical Allele Identifier: CA734490354

Gene: ARID1A

Linked Data

• dbSNP Id: rs1387877704
• gnomAD v3: 1-26696642-A-ATGGGGG
• gnomAD v4: 1-26696642-A-ATGGGGG
• MyVariant Identifiers: chr1:g.27023133_27023134insTGGGGG (hg19) ; chr1:g.26696642_26696643insTGGGGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26696646_26696651dup , CM000663.2:g.26696646_26696651dup	GRCh38
NC_000001.10:g.27023137_27023142dup , CM000663.1:g.27023137_27023142dup	GRCh37
NC_000001.9:g.26895724_26895729dup	NCBI36
NG_029965.1:g.5616_5621dup , LRG_875:g.5616_5621dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324856.13:c.243_248dup MANE Select	ENSP00000320485.7:p.Gly83_Gly84insGlyGly
ENST00000430799.7:c.-13+3029_-13+3034dup	ENSP00000390317.3:n.-13+3029_-13+3034dup
ENST00000637465.1:c.-13+546_-13+551dup	ENSP00000490650.1:n.-13+546_-13+551dup
ENST00000324856.11:c.243_248dup	ENSP00000320485.7:p.Gly83_Gly84insGlyGly
ENST00000457599.6:c.243_248dup	ENSP00000387636.2:p.Gly83_Gly84insGlyGly
NM_006015.4:c.243_248dup , LRG_875t1:c.243_248dup	NP_006006.3:p.Gly83_Gly84insGlyGly
NM_139135.2:c.243_248dup	NP_624361.1:p.Gly83_Gly84insGlyGly
NM_006015.5:c.243_248dup	NP_006006.3:p.Gly83_Gly84insGlyGly
NM_139135.3:c.243_248dup	NP_624361.1:p.Gly83_Gly84insGlyGly
NM_006015.6:c.243_248dup MANE Select	NP_006006.3:p.Gly83_Gly84insGlyGly
NM_139135.4:c.243_248dup	NP_624361.1:p.Gly83_Gly84insGlyGly