Canonical Allele Identifier: CA2739266206
Gene: ARID1B HGNC NCBI

Linked Data

ClinVar Variation Id: 2921065
ClinVar RCV Id: RCV003647245

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.156829375del , CM000668.2:g.156829375del GRCh38
NC_000006.11:g.157150509del , CM000668.1:g.157150509del GRCh37
NC_000006.10:g.157192201del NCBI36
NG_032093.1:g.56446del
NG_032093.2:g.56446del
NG_066624.1:g.58350del

Transcript Alleles

HGVS Amino-acid Change
ENST00000350026.11:c.1940del ENSP00000055163.8:p.Gly647ValfsTer26
ENST00000414678.8:c.1940del ENSP00000412835.3:p.Gly647ValfsTer26
ENST00000637015.2:c.1940del ENSP00000489729.2:p.Gly647ValfsTer26
ENST00000346085.10:c.1940del ENSP00000344546.5:p.Gly647ValfsTer29
ENST00000350026.10:c.1691del ENSP00000055163.7:p.Gly564ValfsTer26
ENST00000414678.7:c.188del ENSP00000412835.2:p.Gly63ValfsTer26
ENST00000494260.2:c.221del ENSP00000490094.1:p.Gly74ValfsTer?
ENST00000636205.1:n.3del
ENST00000636607.1:c.203del ENSP00000490050.1:p.Gly68ValfsTer?
ENST00000636748.1:c.221del ENSP00000489917.1:p.Gly74ValfsTer26
ENST00000636930.2:c.1940del MANE Select ENSP00000490491.2:p.Gly647ValfsTer26
ENST00000637910.1:n.221del
ENST00000638000.1:c.157del
ENST00000647938.1:c.1691del ENSP00000498155.1:p.Gly564ValfsTer29
ENST00000674190.1:n.647del
ENST00000674298.1:c.1680del
ENST00000346085.9:c.1691del ENSP00000344546.4:p.Gly564ValfsTer29
ENST00000350026.9:c.1691del ENSP00000055163.7:p.Gly564ValfsTer26
ENST00000414678.6:c.188del ENSP00000412835.2:p.Gly63ValfsTer26
ENST00000494260.1:n.149del
NM_017519.2:c.1691del NP_059989.2:p.Gly564ValfsTer26
NM_020732.3:c.1691del NP_065783.3:p.Gly564ValfsTer29
XM_005267069.3:c.1691del XP_005267126.2:p.Gly564ValfsTer26
XM_011535984.1:c.560del XP_011534286.1:p.Gly187ValfsTer29
XM_011535985.1:c.560del XP_011534287.1:p.Gly187ValfsTer29
XM_011535986.1:c.140del XP_011534288.1:p.Gly47ValfsTer29
NM_001346813.1:c.1691del NP_001333742.1:p.Gly564ValfsTer26
XM_011535984.2:c.1691del XP_011534286.2:p.Gly564ValfsTer29
XM_017011103.2:c.1691del XP_016866592.1:p.Gly564ValfsTer29
XM_017011104.1:c.1691del XP_016866593.1:p.Gly564ValfsTer29
XM_017011105.2:c.1691del XP_016866594.1:p.Gly564ValfsTer29
XM_017011106.2:c.1691del XP_016866595.1:p.Gly564ValfsTer29
XM_017011107.2:c.1691del XP_016866596.1:p.Gly564ValfsTer29
XR_002956289.1:n.1774del
NM_001371656.1:c.1940del NP_001358585.1:p.Gly647ValfsTer29
NM_001374820.1:c.1940del NP_001361749.1:p.Gly647ValfsTer29
NM_001374828.1:c.1940del MANE Select NP_001361757.1:p.Gly647ValfsTer26
NM_017519.3:c.1940del NP_059989.3:p.Gly647ValfsTer26