Canonical Allele Identifier: CA1139659894
Gene: ARID1B HGNC NCBI

Linked Data

ClinVar Variation Id: 985382
ClinVar RCV Id: RCV001266252
dbSNP Id: rs1793251352

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.157190125dup , CM000668.2:g.157190125dup GRCh38
NC_000006.11:g.157511259dup , CM000668.1:g.157511259dup GRCh37
NC_000006.10:g.157552951dup NCBI36
NG_032093.1:g.417196dup
NG_032093.2:g.417196dup
NG_066624.1:g.419100dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000350026.11:c.3987dup ENSP00000055163.8:p.Tyr1330LeufsTer17
ENST00000414678.8:c.4056dup ENSP00000412835.3:p.Tyr1353LeufsTer17
ENST00000637015.2:c.4275dup ENSP00000489729.2:p.Tyr1426LeufsTer17
ENST00000346085.10:c.4026dup ENSP00000344546.5:p.Tyr1343LeufsTer17
ENST00000350026.10:c.3738dup ENSP00000055163.7:p.Tyr1247LeufsTer17
ENST00000414678.7:c.2304dup ENSP00000412835.2:p.Tyr769LeufsTer17
ENST00000635849.1:c.1467dup ENSP00000490948.1:p.Tyr490LeufsTer17
ENST00000635957.1:c.1098dup ENSP00000490385.1:p.Tyr367LeufsTer17
ENST00000636930.2:c.4146dup MANE Select ENSP00000490491.2:p.Tyr1383LeufsTer17
ENST00000636940.1:n.2143dup
ENST00000637015.1:c.1514dup
ENST00000637568.1:c.1428dup
ENST00000637741.1:n.812dup
ENST00000637810.1:c.1488dup ENSP00000489636.1:p.Tyr497LeufsTer17
ENST00000637904.1:c.1647dup ENSP00000490550.1:p.Tyr550LeufsTer17
ENST00000647938.1:c.3777dup ENSP00000498155.1:p.Tyr1260LeufsTer17
ENST00000346085.9:c.3777dup ENSP00000344546.4:p.Tyr1260LeufsTer17
ENST00000350026.9:c.3738dup ENSP00000055163.7:p.Tyr1247LeufsTer17
ENST00000414678.6:c.2304dup ENSP00000412835.2:p.Tyr769LeufsTer17
NM_017519.2:c.3738dup NP_059989.2:p.Tyr1247LeufsTer17
NM_020732.3:c.3777dup NP_065783.3:p.Tyr1260LeufsTer17
XM_005267069.3:c.3897dup XP_005267126.2:p.Tyr1300LeufsTer17
XM_011535984.1:c.2976dup XP_011534286.1:p.Tyr993LeufsTer17
XM_011535985.1:c.2796dup XP_011534287.1:p.Tyr933LeufsTer17
XM_011535986.1:c.2556dup XP_011534288.1:p.Tyr853LeufsTer17
XM_011535987.1:c.2175dup XP_011534289.1:p.Tyr726LeufsTer17
XM_011535988.1:c.1038dup XP_011534290.1:p.Tyr347LeufsTer17
NM_001346813.1:c.3897dup NP_001333742.1:p.Tyr1300LeufsTer17
NM_001363725.1:c.1647dup NP_001350654.1:p.Tyr550LeufsTer17
XM_011535984.2:c.4107dup XP_011534286.2:p.Tyr1370LeufsTer17
XM_011535988.3:c.1038dup XP_011534290.1:p.Tyr347LeufsTer17
XM_017011103.2:c.4008dup XP_016866592.1:p.Tyr1337LeufsTer17
XM_017011104.1:c.3978dup XP_016866593.1:p.Tyr1327LeufsTer17
XM_017011105.2:c.3948dup XP_016866594.1:p.Tyr1317LeufsTer17
XM_017011106.2:c.3819dup XP_016866595.1:p.Tyr1274LeufsTer17
XM_017011107.2:c.3798dup XP_016866596.1:p.Tyr1267LeufsTer17
XR_002956289.1:n.4190dup
NM_001363725.2:c.1647dup NP_001350654.1:p.Tyr550LeufsTer17
NM_001371656.1:c.4026dup NP_001358585.1:p.Tyr1343LeufsTer17
NM_001374820.1:c.4026dup NP_001361749.1:p.Tyr1343LeufsTer17
NM_001374828.1:c.4146dup MANE Select NP_001361757.1:p.Tyr1383LeufsTer17
NM_017519.3:c.3987dup NP_059989.3:p.Tyr1330LeufsTer17