Canonical Allele Identifier: CA707662

Gene: ARID1A

Linked Data

• ClinVar Variation Id: 1228712
• ClinVar RCV Id: RCV001616343 ; RCV001821928 ; RCV002260228
• dbSNP Id: rs753766136
• ExAC: 1:27105675 GGAA / G
• gnomAD v2: 1-27105675-GGAA-G
• gnomAD v3: 1-26779184-GGAA-G
• gnomAD v4: 1-26779184-GGAA-G
• COSMIC: COSM5018663
• MyVariant Identifiers: chr1:g.27105679_27105681del (hg19) ; chr1:g.27105676_27105678del (hg19) ; chr1:g.26779188_26779190del (hg38) ; chr1:g.26779185_26779187del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26779197_26779199del , CM000663.2:g.26779197_26779199del	GRCh38
NC_000001.10:g.27105688_27105690del , CM000663.1:g.27105688_27105690del	GRCh37
NC_000001.9:g.26978275_26978277del	NCBI36
NG_029965.1:g.88167_88169del , LRG_875:g.88167_88169del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324856.13:c.5299_5301del MANE Select	ENSP00000320485.7:p.Glu1767del
ENST00000374152.7:c.4150_4152del	ENSP00000363267.2:p.Glu1384del
ENST00000430799.7:c.4147_4149del	ENSP00000390317.3:p.Glu1383del
ENST00000466382.2:c.716_718del
ENST00000636219.1:c.4153_4155del	ENSP00000489842.1:p.Glu1385del
ENST00000637788.1:n.1099_1101del
ENST00000324856.11:c.5299_5301del	ENSP00000320485.7:p.Glu1767del
ENST00000374152.6:c.4150_4152del	ENSP00000363267.2:p.Glu1384del
ENST00000430799.6:c.1988_1990del
ENST00000457599.6:c.4648_4650del	ENSP00000387636.2:p.Glu1550del
ENST00000466382.1:c.716_718del
ENST00000532781.1:c.797_799del
NM_006015.4:c.5299_5301del , LRG_875t1:c.5299_5301del	NP_006006.3:p.Glu1767del
NM_139135.2:c.4648_4650del	NP_624361.1:p.Glu1550del
NM_006015.5:c.5299_5301del	NP_006006.3:p.Glu1767del
NM_139135.3:c.4648_4650del	NP_624361.1:p.Glu1550del
NM_006015.6:c.5299_5301del MANE Select	NP_006006.3:p.Glu1767del
NM_139135.4:c.4648_4650del	NP_624361.1:p.Glu1550del