Canonical Allele Identifier: CA2580075311
Gene: ARID1B HGNC NCBI

Linked Data

ClinVar Variation Id: 1705320
ClinVar RCV Id: RCV002283634

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.157200872del , CM000668.2:g.157200872del GRCh38
NC_000006.11:g.157522006del , CM000668.1:g.157522006del GRCh37
NC_000006.10:g.157563698del NCBI36
NG_032093.1:g.427943del
NG_032093.2:g.427943del
NG_066624.1:g.429847del

Transcript Alleles

HGVS Amino-acid Change
ENST00000350026.11:c.4488del ENSP00000055163.8:p.Tyr1497ThrfsTer21
ENST00000414678.8:c.4557del ENSP00000412835.3:p.Tyr1520ThrfsTer21
ENST00000637015.2:c.4776del ENSP00000489729.2:p.Tyr1593ThrfsTer21
ENST00000346085.10:c.4527del ENSP00000344546.5:p.Tyr1510ThrfsTer21
ENST00000350026.10:c.4239del ENSP00000055163.7:p.Tyr1414ThrfsTer21
ENST00000414678.7:c.2805del ENSP00000412835.2:p.Tyr936ThrfsTer21
ENST00000635849.1:c.1968del ENSP00000490948.1:p.Tyr657ThrfsTer21
ENST00000635957.1:c.1599del ENSP00000490385.1:p.Tyr534ThrfsTer21
ENST00000636227.1:n.3110del
ENST00000636254.1:n.567del
ENST00000636930.2:c.4647del MANE Select ENSP00000490491.2:p.Tyr1550ThrfsTer21
ENST00000636940.1:n.2644del
ENST00000637015.1:c.2015del
ENST00000637568.1:c.1929del
ENST00000637741.1:n.1313del
ENST00000637810.1:c.1989del ENSP00000489636.1:p.Tyr664ThrfsTer21
ENST00000637904.1:c.2148del ENSP00000490550.1:p.Tyr717ThrfsTer21
ENST00000647938.1:c.4278del ENSP00000498155.1:p.Tyr1427ThrfsTer21
ENST00000346085.9:c.4278del ENSP00000344546.4:p.Tyr1427ThrfsTer21
ENST00000350026.9:c.4239del ENSP00000055163.7:p.Tyr1414ThrfsTer21
ENST00000414678.6:c.2805del ENSP00000412835.2:p.Tyr936ThrfsTer21
NM_017519.2:c.4239del NP_059989.2:p.Tyr1414ThrfsTer21
NM_020732.3:c.4278del NP_065783.3:p.Tyr1427ThrfsTer21
XM_005267069.3:c.4398del XP_005267126.2:p.Tyr1467ThrfsTer21
XM_011535984.1:c.3477del XP_011534286.1:p.Tyr1160ThrfsTer21
XM_011535985.1:c.3297del XP_011534287.1:p.Tyr1100ThrfsTer21
XM_011535986.1:c.3057del XP_011534288.1:p.Tyr1020ThrfsTer21
XM_011535987.1:c.2676del XP_011534289.1:p.Tyr893ThrfsTer21
XM_011535988.1:c.1539del XP_011534290.1:p.Tyr514ThrfsTer21
NM_001346813.1:c.4398del NP_001333742.1:p.Tyr1467ThrfsTer21
NM_001363725.1:c.2148del NP_001350654.1:p.Tyr717ThrfsTer21
XM_011535984.2:c.4608del XP_011534286.2:p.Tyr1537ThrfsTer21
XM_011535988.3:c.1539del XP_011534290.1:p.Tyr514ThrfsTer21
XM_017011103.2:c.4509del XP_016866592.1:p.Tyr1504ThrfsTer21
XM_017011104.1:c.4479del XP_016866593.1:p.Tyr1494ThrfsTer21
XM_017011105.2:c.4449del XP_016866594.1:p.Tyr1484ThrfsTer21
XM_017011106.2:c.4320del XP_016866595.1:p.Tyr1441ThrfsTer21
XM_017011107.2:c.4299del XP_016866596.1:p.Tyr1434ThrfsTer21
XR_002956289.1:n.4594del
NM_001363725.2:c.2148del NP_001350654.1:p.Tyr717ThrfsTer21
NM_001371656.1:c.4527del NP_001358585.1:p.Tyr1510ThrfsTer21
NM_001374820.1:c.4527del NP_001361749.1:p.Tyr1510ThrfsTer21
NM_001374828.1:c.4647del MANE Select NP_001361757.1:p.Tyr1550ThrfsTer21
NM_017519.3:c.4488del NP_059989.3:p.Tyr1497ThrfsTer21