Canonical Allele Identifier: CA2580075254
Gene: ARID1B HGNC NCBI

Linked Data

ClinVar Variation Id: 1697176
ClinVar RCV Id: RCV002267522
dbSNP Id: rs2128046981

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.156829385del , CM000668.2:g.156829385del GRCh38
NC_000006.11:g.157150519del , CM000668.1:g.157150519del GRCh37
NC_000006.10:g.157192211del NCBI36
NG_032093.1:g.56456del
NG_032093.2:g.56456del
NG_066624.1:g.58360del

Transcript Alleles

HGVS Amino-acid Change
ENST00000350026.11:c.1950del ENSP00000055163.8:p.Ala652ProfsTer21
ENST00000414678.8:c.1950del ENSP00000412835.3:p.Ala652ProfsTer21
ENST00000637015.2:c.1950del ENSP00000489729.2:p.Ala652ProfsTer21
ENST00000346085.10:c.1950del ENSP00000344546.5:p.Ala652ProfsTer24
ENST00000350026.10:c.1701del ENSP00000055163.7:p.Ala569ProfsTer21
ENST00000414678.7:c.198del ENSP00000412835.2:p.Ala68ProfsTer21
ENST00000494260.2:c.231del ENSP00000490094.1:p.Ala79ProfsTer?
ENST00000636205.1:n.13del
ENST00000636607.1:c.213del ENSP00000490050.1:p.Ala73ProfsTer?
ENST00000636748.1:c.231del ENSP00000489917.1:p.Ala79ProfsTer21
ENST00000636930.2:c.1950del MANE Select ENSP00000490491.2:p.Ala652ProfsTer21
ENST00000637910.1:n.231del
ENST00000638000.1:c.167del
ENST00000647938.1:c.1701del ENSP00000498155.1:p.Ala569ProfsTer24
ENST00000674190.1:n.657del
ENST00000674298.1:c.1690del
ENST00000346085.9:c.1701del ENSP00000344546.4:p.Ala569ProfsTer24
ENST00000350026.9:c.1701del ENSP00000055163.7:p.Ala569ProfsTer21
ENST00000414678.6:c.198del ENSP00000412835.2:p.Ala68ProfsTer21
ENST00000494260.1:n.159del
NM_017519.2:c.1701del NP_059989.2:p.Ala569ProfsTer21
NM_020732.3:c.1701del NP_065783.3:p.Ala569ProfsTer24
XM_005267069.3:c.1701del XP_005267126.2:p.Ala569ProfsTer21
XM_011535984.1:c.570del XP_011534286.1:p.Ala192ProfsTer24
XM_011535985.1:c.570del XP_011534287.1:p.Ala192ProfsTer24
XM_011535986.1:c.150del XP_011534288.1:p.Ala52ProfsTer24
NM_001346813.1:c.1701del NP_001333742.1:p.Ala569ProfsTer21
XM_011535984.2:c.1701del XP_011534286.2:p.Ala569ProfsTer24
XM_017011103.2:c.1701del XP_016866592.1:p.Ala569ProfsTer24
XM_017011104.1:c.1701del XP_016866593.1:p.Ala569ProfsTer24
XM_017011105.2:c.1701del XP_016866594.1:p.Ala569ProfsTer24
XM_017011106.2:c.1701del XP_016866595.1:p.Ala569ProfsTer24
XM_017011107.2:c.1701del XP_016866596.1:p.Ala569ProfsTer24
XR_002956289.1:n.1784del
NM_001371656.1:c.1950del NP_001358585.1:p.Ala652ProfsTer24
NM_001374820.1:c.1950del NP_001361749.1:p.Ala652ProfsTer24
NM_001374828.1:c.1950del MANE Select NP_001361757.1:p.Ala652ProfsTer21
NM_017519.3:c.1950del NP_059989.3:p.Ala652ProfsTer21