Canonical Allele Identifier: CA734490745

Gene: ARID1A

Linked Data

• ClinVar Variation Id: 1312148
• ClinVar RCV Id: RCV001761369
• dbSNP Id: rs1372477261
• gnomAD v4: 1-26696772-C-CGGCGGT
• MyVariant Identifiers: chr1:g.27023263_27023264insGGCGGT (hg19) ; chr1:g.26696772_26696773insGGCGGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26696778_26696783dup , CM000663.2:g.26696778_26696783dup	GRCh38
NC_000001.10:g.27023269_27023274dup , CM000663.1:g.27023269_27023274dup	GRCh37
NC_000001.9:g.26895856_26895861dup	NCBI36
NG_029965.1:g.5748_5753dup , LRG_875:g.5748_5753dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324856.13:c.375_380dup MANE Select	ENSP00000320485.7:p.Gly127_Ser128insGlyGly
ENST00000430799.7:c.-13+3161_-13+3166dup	ENSP00000390317.3:n.-13+3161_-13+3166dup
ENST00000637465.1:c.-13+678_-13+683dup	ENSP00000490650.1:n.-13+678_-13+683dup
ENST00000324856.11:c.375_380dup	ENSP00000320485.7:p.Gly127_Ser128insGlyGly
ENST00000457599.6:c.375_380dup	ENSP00000387636.2:p.Gly127_Ser128insGlyGly
NM_006015.4:c.375_380dup , LRG_875t1:c.375_380dup	NP_006006.3:p.Gly127_Ser128insGlyGly
NM_139135.2:c.375_380dup	NP_624361.1:p.Gly127_Ser128insGlyGly
NM_006015.5:c.375_380dup	NP_006006.3:p.Gly127_Ser128insGlyGly
NM_139135.3:c.375_380dup	NP_624361.1:p.Gly127_Ser128insGlyGly
NM_006015.6:c.375_380dup MANE Select	NP_006006.3:p.Gly127_Ser128insGlyGly
NM_139135.4:c.375_380dup	NP_624361.1:p.Gly127_Ser128insGlyGly