Canonical Allele Identifier: CA209613
Gene: ARID1B HGNC NCBI

Linked Data

ClinVar Variation Id: 210298
ClinVar RCV Id: RCV000195050
dbSNP Id: rs797045279

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.157206197dup , CM000668.2:g.157206197dup GRCh38
NC_000006.11:g.157527331dup , CM000668.1:g.157527331dup GRCh37
NC_000006.10:g.157569023dup NCBI36
NG_032093.1:g.433268dup
NG_032093.2:g.433268dup
NG_066624.1:g.435172dup

Transcript Alleles

HGVS Amino-acid change
ENST00000350026.11:c.5266dup ENSP00000055163.8:p.Tyr1756LeufsTer3
ENST00000414678.8:c.5335dup ENSP00000412835.3:p.Tyr1779LeufsTer3
ENST00000637015.2:c.5554dup ENSP00000489729.2:p.Tyr1852LeufsTer3
ENST00000346085.10:c.5305dup ENSP00000344546.5:p.Tyr1769LeufsTer3
ENST00000350026.10:c.5017dup ENSP00000055163.7:p.Tyr1673LeufsTer3
ENST00000414678.7:c.3583dup ENSP00000412835.2:p.Tyr1195LeufsTer3
ENST00000635849.1:c.2746dup ENSP00000490948.1:p.Tyr916LeufsTer3
ENST00000635957.1:c.2377dup ENSP00000490385.1:p.Tyr793LeufsTer3
ENST00000636227.1:n.3888dup
ENST00000636254.1:n.1345dup
ENST00000636930.2:c.5425dup MANE Select ENSP00000490491.2:p.Tyr1809LeufsTer3
ENST00000636940.1:n.3422dup
ENST00000637015.1:c.2793dup
ENST00000637568.1:c.2707dup
ENST00000637741.1:n.2091dup
ENST00000637810.1:c.2767dup ENSP00000489636.1:p.Tyr923LeufsTer3
ENST00000637904.1:c.2926dup ENSP00000490550.1:p.Tyr976LeufsTer3
ENST00000637933.1:n.2540dup
ENST00000647938.1:c.5056dup ENSP00000498155.1:p.Tyr1686LeufsTer3
ENST00000346085.9:c.5056dup ENSP00000344546.4:p.Tyr1686LeufsTer3
ENST00000350026.9:c.5017dup ENSP00000055163.7:p.Tyr1673LeufsTer3
ENST00000414678.6:c.3583dup ENSP00000412835.2:p.Tyr1195LeufsTer3
NM_017519.2:c.5017dup NP_059989.2:p.Tyr1673LeufsTer3
NM_020732.3:c.5056dup NP_065783.3:p.Tyr1686LeufsTer3
XM_005267069.3:c.5176dup XP_005267126.2:p.Tyr1726LeufsTer3
XM_011535984.1:c.4255dup XP_011534286.1:p.Tyr1419LeufsTer3
XM_011535985.1:c.4075dup XP_011534287.1:p.Tyr1359LeufsTer3
XM_011535986.1:c.3835dup XP_011534288.1:p.Tyr1279LeufsTer3
XM_011535987.1:c.3454dup XP_011534289.1:p.Tyr1152LeufsTer3
XM_011535988.1:c.2317dup XP_011534290.1:p.Tyr773LeufsTer3
NM_001346813.1:c.5176dup NP_001333742.1:p.Tyr1726LeufsTer3
NM_001363725.1:c.2926dup NP_001350654.1:p.Tyr976LeufsTer3
XM_011535984.2:c.5386dup XP_011534286.2:p.Tyr1796LeufsTer3
XM_011535988.3:c.2317dup XP_011534290.1:p.Tyr773LeufsTer3
XM_017011103.2:c.5287dup XP_016866592.1:p.Tyr1763LeufsTer3
XM_017011104.1:c.5257dup XP_016866593.1:p.Tyr1753LeufsTer3
XM_017011105.2:c.5227dup XP_016866594.1:p.Tyr1743LeufsTer3
XM_017011106.2:c.5098dup XP_016866595.1:p.Tyr1700LeufsTer3
XM_017011107.2:c.5077dup XP_016866596.1:p.Tyr1693LeufsTer3
XR_002956289.1:n.5372dup
NM_001363725.2:c.2926dup NP_001350654.1:p.Tyr976LeufsTer3
NM_001371656.1:c.5305dup NP_001358585.1:p.Tyr1769LeufsTer3
NM_001374820.1:c.5305dup NP_001361749.1:p.Tyr1769LeufsTer3
NM_001374828.1:c.5425dup MANE Select NP_001361757.1:p.Tyr1809LeufsTer3
NM_017519.3:c.5266dup NP_059989.3:p.Tyr1756LeufsTer3