Canonical Allele Identifier: CA16617134
Gene: ARID1A HGNC NCBI

Linked Data

ClinVar Variation Id: 419853
ClinVar RCV Id: RCV000482693
dbSNP Id: rs1064794151
MyVariant Identifiers: chr1:g.27105740del (hg19) chr1:g.26779249del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.26779249del , CM000663.2:g.26779249del GRCh38
NC_000001.10:g.27105740del , CM000663.1:g.27105740del GRCh37
NC_000001.9:g.26978327del NCBI36
NG_029965.1:g.88219del , LRG_875:g.88219del

Transcript Alleles

HGVS Amino-acid change
ENST00000324856.13:c.5351del MANE Select ENSP00000320485.7:p.Asn1784MetfsTer5
ENST00000374152.7:c.4202del ENSP00000363267.2:p.Asn1401MetfsTer5
ENST00000430799.7:c.4199del ENSP00000390317.3:p.Asn1400MetfsTer5
ENST00000466382.2:c.768del
ENST00000636219.1:c.4205del ENSP00000489842.1:p.Asn1402MetfsTer5
ENST00000637788.1:n.1151del
ENST00000324856.11:c.5351del ENSP00000320485.7:p.Asn1784MetfsTer5
ENST00000374152.6:c.4202del ENSP00000363267.2:p.Asn1401MetfsTer5
ENST00000430799.6:c.2040del
ENST00000457599.6:c.4700del ENSP00000387636.2:p.Asn1567MetfsTer5
ENST00000466382.1:c.768del
ENST00000532781.1:c.849del
NM_006015.4:c.5351del , LRG_875t1:c.5351del NP_006006.3:p.Asn1784MetfsTer5
NM_139135.2:c.4700del NP_624361.1:p.Asn1567MetfsTer5
NM_006015.5:c.5351del NP_006006.3:p.Asn1784MetfsTer5
NM_139135.3:c.4700del NP_624361.1:p.Asn1567MetfsTer5
NM_006015.6:c.5351del MANE Select NP_006006.3:p.Asn1784MetfsTer5
NM_139135.4:c.4700del NP_624361.1:p.Asn1567MetfsTer5
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