Canonical Allele Identifier: CA707672

Gene: ARID1A

Linked Data

• ClinVar Variation Id: 1985203
• ClinVar RCV Id: RCV002800479
• dbSNP Id: rs765246223
• ExAC: 1:27105714 GGAA / G
• gnomAD v2: 1-27105714-GGAA-G
• gnomAD v3: 1-26779223-GGAA-G
• gnomAD v4: 1-26779223-GGAA-G
• COSMIC: COSM6027951
• MyVariant Identifiers: chr1:g.27105715_27105717del (hg19) ; chr1:g.26779225_26779227del (hg38) ; chr1:g.26779224_26779226del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26779232_26779234del , CM000663.2:g.26779232_26779234del	GRCh38
NC_000001.10:g.27105723_27105725del , CM000663.1:g.27105723_27105725del	GRCh37
NC_000001.9:g.26978310_26978312del	NCBI36
NG_029965.1:g.88202_88204del , LRG_875:g.88202_88204del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324856.13:c.5334_5336del MANE Select	ENSP00000320485.7:p.Glu1779del
ENST00000374152.7:c.4185_4187del	ENSP00000363267.2:p.Glu1396del
ENST00000430799.7:c.4182_4184del	ENSP00000390317.3:p.Glu1395del
ENST00000466382.2:c.751_753del
ENST00000636219.1:c.4188_4190del	ENSP00000489842.1:p.Glu1397del
ENST00000637788.1:n.1134_1136del
ENST00000324856.11:c.5334_5336del	ENSP00000320485.7:p.Glu1779del
ENST00000374152.6:c.4185_4187del	ENSP00000363267.2:p.Glu1396del
ENST00000430799.6:c.2023_2025del
ENST00000457599.6:c.4683_4685del	ENSP00000387636.2:p.Glu1562del
ENST00000466382.1:c.751_753del
ENST00000532781.1:c.832_834del
NM_006015.4:c.5334_5336del , LRG_875t1:c.5334_5336del	NP_006006.3:p.Glu1779del
NM_139135.2:c.4683_4685del	NP_624361.1:p.Glu1562del
NM_006015.5:c.5334_5336del	NP_006006.3:p.Glu1779del
NM_139135.3:c.4683_4685del	NP_624361.1:p.Glu1562del
NM_006015.6:c.5334_5336del MANE Select	NP_006006.3:p.Glu1779del
NM_139135.4:c.4683_4685del	NP_624361.1:p.Glu1562del