Canonical Allele Identifier: CA707370
Gene: ARID1A HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.26773714_26773716dup , CM000663.2:g.26773714_26773716dup GRCh38
NC_000001.10:g.27100205_27100207dup , CM000663.1:g.27100205_27100207dup GRCh37
NC_000001.9:g.26972792_26972794dup NCBI36
NG_029965.1:g.82684_82686dup , LRG_875:g.82684_82686dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000324856.13:c.4001_4003dup MANE Select ENSP00000320485.7:p.Gln1334_Arg1335insGln
ENST00000374152.7:c.2852_2854dup ENSP00000363267.2:p.Gln951_Arg952insGln
ENST00000430799.7:c.2849_2851dup ENSP00000390317.3:p.Gln950_Arg951insGln
ENST00000466382.2:c.310_312dup
ENST00000636072.1:n.394_396dup
ENST00000636219.1:c.2855_2857dup ENSP00000489842.1:p.Gln952_Arg953insGln
ENST00000636794.1:n.307_309dup
ENST00000324856.11:c.4001_4003dup ENSP00000320485.7:p.Gln1334_Arg1335insGln
ENST00000374152.6:c.2852_2854dup ENSP00000363267.2:p.Gln951_Arg952insGln
ENST00000430799.6:c.690_692dup
ENST00000457599.6:c.4001_4003dup ENSP00000387636.2:p.Gln1334_Arg1335insGln
ENST00000466382.1:c.310_312dup
ENST00000615191.4:c.2849_2851dup ENSP00000478955.1:p.Gln950_Arg951insGln
NM_006015.4:c.4001_4003dup , LRG_875t1:c.4001_4003dup NP_006006.3:p.Gln1334_Arg1335insGln
NM_139135.2:c.4001_4003dup NP_624361.1:p.Gln1334_Arg1335insGln
NM_006015.5:c.4001_4003dup NP_006006.3:p.Gln1334_Arg1335insGln
NM_139135.3:c.4001_4003dup NP_624361.1:p.Gln1334_Arg1335insGln
NM_006015.6:c.4001_4003dup MANE Select NP_006006.3:p.Gln1334_Arg1335insGln
NM_139135.4:c.4001_4003dup NP_624361.1:p.Gln1334_Arg1335insGln