Canonical Allele Identifier: CA521909948
Gene: ARID1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2174252
ClinVar RCV Id: RCV002585095 RCV003111627
dbSNP Id: rs1015322780
gnomAD v2: 1-27023140-T-TGGC
gnomAD v3: 1-26696649-T-TGGC
gnomAD v4: 1-26696649-T-TGGC
MyVariant Identifiers: chr1:g.27023155_27023158delinsCGGAGCC (hg19) chr1:g.27023140_27023141insGGC (hg19) chr1:g.26696664_26696667delinsCGGAGCC (hg38) chr1:g.26696649_26696650insGGC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.26696661_26696663dup , CM000663.2:g.26696661_26696663dup GRCh38
NC_000001.10:g.27023152_27023154dup , CM000663.1:g.27023152_27023154dup GRCh37
NC_000001.9:g.26895739_26895741dup NCBI36
NG_029965.1:g.5631_5633dup , LRG_875:g.5631_5633dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000324856.13:c.258_260dup MANE Select ENSP00000320485.7:p.Gly87_Ala88insGly
ENST00000430799.7:c.-13+3044_-13+3046dup ENSP00000390317.3:n.-13+3044_-13+3046dup
ENST00000637465.1:c.-13+561_-13+563dup ENSP00000490650.1:n.-13+561_-13+563dup
ENST00000324856.11:c.258_260dup ENSP00000320485.7:p.Gly87_Ala88insGly
ENST00000457599.6:c.258_260dup ENSP00000387636.2:p.Gly87_Ala88insGly
NM_006015.4:c.258_260dup , LRG_875t1:c.258_260dup NP_006006.3:p.Gly87_Ala88insGly
NM_139135.2:c.258_260dup NP_624361.1:p.Gly87_Ala88insGly
NM_006015.5:c.258_260dup NP_006006.3:p.Gly87_Ala88insGly
NM_139135.3:c.258_260dup NP_624361.1:p.Gly87_Ala88insGly
NM_006015.6:c.258_260dup MANE Select NP_006006.3:p.Gly87_Ala88insGly
NM_139135.4:c.258_260dup NP_624361.1:p.Gly87_Ala88insGly
Search 100 bp 5'
Search 100 bp 3'