Canonical Allele Identifier: CA16617135
Gene: ARID1A HGNC NCBI

Linked Data

ClinVar Variation Id: 422284
ClinVar RCV Id: RCV000479219
dbSNP Id: rs1064795682
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.26780564_26780570delinsACATGCAGAAC , CM000663.2:g.26780564_26780570delinsACATGCAGAAC GRCh38
NC_000001.10:g.27107055_27107061delinsACATGCAGAAC , CM000663.1:g.27107055_27107061delinsACATGCAGAAC GRCh37
NC_000001.9:g.26979642_26979648delinsACATGCAGAAC NCBI36
NG_029965.1:g.89534_89540delinsACATGCAGAAC , LRG_875:g.89534_89540delinsACATGCAGAAC

Transcript Alleles

HGVS Amino-acid change
ENST00000324856.13:c.6666_6672delinsACATGCAGAAC MANE Select ENSP00000320485.7:p.Phe2223HisfsTer6
ENST00000374152.7:c.5517_5523delinsACATGCAGAAC ENSP00000363267.2:p.Phe1840HisfsTer6
ENST00000430799.7:c.5514_5520delinsACATGCAGAAC ENSP00000390317.3:p.Phe1839HisfsTer6
ENST00000466382.2:c.2083_2089delinsACATGCAGAAC
ENST00000636219.1:c.5520_5526delinsACATGCAGAAC ENSP00000489842.1:p.Phe1841HisfsTer6
ENST00000637788.1:n.2466_2472delinsACATGCAGAAC
ENST00000324856.11:c.6666_6672delinsACATGCAGAAC ENSP00000320485.7:p.Phe2223HisfsTer6
ENST00000374152.6:c.5517_5523delinsACATGCAGAAC ENSP00000363267.2:p.Phe1840HisfsTer6
ENST00000430799.6:c.3355_3361delinsACATGCAGAAC
ENST00000457599.6:c.6015_6021delinsACATGCAGAAC ENSP00000387636.2:p.Phe2006HisfsTer6
ENST00000466382.1:c.2083_2089delinsACATGCAGAAC
ENST00000532781.1:c.2164_2170delinsACATGCAGAAC
NM_006015.4:c.6666_6672delinsACATGCAGAAC , LRG_875t1:c.6666_6672delinsACATGCAGAAC NP_006006.3:p.Phe2223HisfsTer6
NM_139135.2:c.6015_6021delinsACATGCAGAAC NP_624361.1:p.Phe2006HisfsTer6
NM_006015.5:c.6666_6672delinsACATGCAGAAC NP_006006.3:p.Phe2223HisfsTer6
NM_139135.3:c.6015_6021delinsACATGCAGAAC NP_624361.1:p.Phe2006HisfsTer6
NM_006015.6:c.6666_6672delinsACATGCAGAAC MANE Select NP_006006.3:p.Phe2223HisfsTer6
NM_139135.4:c.6015_6021delinsACATGCAGAAC NP_624361.1:p.Phe2006HisfsTer6
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