Canonical Allele Identifier: CA1160180719
Gene: ARID1A HGNC NCBI

Linked Data

ClinVar Variation Id: 992765
ClinVar RCV Id: RCV001281510
dbSNP Id: rs2080258350

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.26696679_26696681dup , CM000663.2:g.26696679_26696681dup GRCh38
NC_000001.10:g.27023170_27023172dup , CM000663.1:g.27023170_27023172dup GRCh37
NC_000001.9:g.26895757_26895759dup NCBI36
NG_029965.1:g.5649_5651dup , LRG_875:g.5649_5651dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000324856.13:c.276_278dup MANE Select ENSP00000320485.7:p.Gly93_Pro94insGly
ENST00000430799.7:c.-13+3062_-13+3064dup ENSP00000390317.3:n.-13+3062_-13+3064dup
ENST00000637465.1:c.-13+579_-13+581dup ENSP00000490650.1:n.-13+579_-13+581dup
ENST00000324856.11:c.276_278dup ENSP00000320485.7:p.Gly93_Pro94insGly
ENST00000457599.6:c.276_278dup ENSP00000387636.2:p.Gly93_Pro94insGly
NM_006015.4:c.276_278dup , LRG_875t1:c.276_278dup NP_006006.3:p.Gly93_Pro94insGly
NM_139135.2:c.276_278dup NP_624361.1:p.Gly93_Pro94insGly
NM_006015.5:c.276_278dup NP_006006.3:p.Gly93_Pro94insGly
NM_139135.3:c.276_278dup NP_624361.1:p.Gly93_Pro94insGly
NM_006015.6:c.276_278dup MANE Select NP_006006.3:p.Gly93_Pro94insGly
NM_139135.4:c.276_278dup NP_624361.1:p.Gly93_Pro94insGly