Canonical Allele Identifier: CA209547

Gene: ARID1A

Linked Data

• ClinVar Variation Id: 30292
• ClinVar RCV Id: RCV000023227 ; RCV000480869 ; RCV003314556
• dbSNP Id: rs797045262
• gnomAD v3: 1-26696421-CCCCGCCGCCGCCAGCAGCCTGGGCAA-C
• gnomAD v4: 1-26696421-CCCCGCCGCCGCCAGCAGCCTGGGCAA-C
• COSMIC: COSM4949635
• MyVariant Identifiers: chr1:g.27022925_27022950del (hg19) ; chr1:g.26696434_26696459del (hg38)
• PubMed: PMID:22426308

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26696434_26696459del , CM000663.2:g.26696434_26696459del	GRCh38
NC_000001.10:g.27022925_27022950del , CM000663.1:g.27022925_27022950del	GRCh37
NC_000001.9:g.26895512_26895537del	NCBI36
NG_029965.1:g.5404_5429del , LRG_875:g.5404_5429del

Transcript Alleles

HGVS	Amino-acid change
ENST00000324856.13:c.31_56del MANE Select	ENSP00000320485.7:p.Ser11AlafsTer?
ENST00000430799.7:c.-13+2817_-13+2842del	ENSP00000390317.3:n.-13+2817_-13+2842del
ENST00000637465.1:c.-13+334_-13+359del	ENSP00000490650.1:n.-13+334_-13+359del
ENST00000324856.11:c.31_56del	ENSP00000320485.7:p.Ser11AlafsTer?
ENST00000457599.6:c.31_56del	ENSP00000387636.2:p.Ser11AlafsTer?
NM_006015.4:c.31_56del , LRG_875t1:c.31_56del	NP_006006.3:p.Ser11AlafsTer?
NM_139135.2:c.31_56del	NP_624361.1:p.Ser11AlafsTer?
NM_006015.5:c.31_56del	NP_006006.3:p.Ser11AlafsTer?
NM_139135.3:c.31_56del	NP_624361.1:p.Ser11AlafsTer?
NM_006015.6:c.31_56del MANE Select	NP_006006.3:p.Ser11AlafsTer?
NM_139135.4:c.31_56del	NP_624361.1:p.Ser11AlafsTer?