Canonical Allele Identifier: CA645294040
Gene: ARID1B HGNC NCBI

Linked Data

ClinVar Variation Id: 426239
ClinVar RCV Id: RCV000489347
dbSNP Id: rs1085307518

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.157189687_157189688del , CM000668.2:g.157189687_157189688del GRCh38
NC_000006.11:g.157510821_157510822del , CM000668.1:g.157510821_157510822del GRCh37
NC_000006.10:g.157552513_157552514del NCBI36
NG_032093.1:g.416758_416759del
NG_032093.2:g.416758_416759del
NG_066624.1:g.418662_418663del

Transcript Alleles

HGVS Amino-acid change
ENST00000350026.11:c.3806_3807del ENSP00000055163.8:p.Gly1269GlufsTer10
ENST00000414678.8:c.3875_3876del ENSP00000412835.3:p.Gly1292GlufsTer10
ENST00000637015.2:c.4094_4095del ENSP00000489729.2:p.Gly1365GlufsTer10
ENST00000346085.10:c.3845_3846del ENSP00000344546.5:p.Gly1282GlufsTer10
ENST00000350026.10:c.3557_3558del ENSP00000055163.7:p.Gly1186GlufsTer10
ENST00000414678.7:c.2123_2124del ENSP00000412835.2:p.Gly708GlufsTer10
ENST00000635849.1:c.1286_1287del ENSP00000490948.1:p.Gly429GlufsTer10
ENST00000635957.1:c.920_921del ENSP00000490385.1:p.Gly307GlufsTer10
ENST00000636930.2:c.3965_3966del MANE Select ENSP00000490491.2:p.Gly1322GlufsTer10
ENST00000636940.1:n.1962_1963del
ENST00000637015.1:c.1333_1334del
ENST00000637568.1:c.1247_1248del
ENST00000637741.1:n.631_632del
ENST00000637810.1:c.1307_1308del ENSP00000489636.1:p.Gly436GlufsTer10
ENST00000637904.1:c.1466_1467del ENSP00000490550.1:p.Gly489GlufsTer10
ENST00000647938.1:c.3596_3597del ENSP00000498155.1:p.Gly1199GlufsTer10
ENST00000346085.9:c.3596_3597del ENSP00000344546.4:p.Gly1199GlufsTer10
ENST00000350026.9:c.3557_3558del ENSP00000055163.7:p.Gly1186GlufsTer10
ENST00000414678.6:c.2123_2124del ENSP00000412835.2:p.Gly708GlufsTer10
NM_017519.2:c.3557_3558del NP_059989.2:p.Gly1186GlufsTer10
NM_020732.3:c.3596_3597del NP_065783.3:p.Gly1199GlufsTer10
XM_005267069.3:c.3716_3717del XP_005267126.2:p.Gly1239GlufsTer10
XM_011535984.1:c.2795_2796del XP_011534286.1:p.Gly932GlufsTer10
XM_011535985.1:c.2615_2616del XP_011534287.1:p.Gly872GlufsTer10
XM_011535986.1:c.2375_2376del XP_011534288.1:p.Gly792GlufsTer10
XM_011535987.1:c.1994_1995del XP_011534289.1:p.Gly665GlufsTer10
XM_011535988.1:c.857_858del XP_011534290.1:p.Gly286GlufsTer10
NM_001346813.1:c.3716_3717del NP_001333742.1:p.Gly1239GlufsTer10
NM_001363725.1:c.1466_1467del NP_001350654.1:p.Gly489GlufsTer10
XM_011535984.2:c.3926_3927del XP_011534286.2:p.Gly1309GlufsTer10
XM_011535988.3:c.857_858del XP_011534290.1:p.Gly286GlufsTer10
XM_017011103.2:c.3827_3828del XP_016866592.1:p.Gly1276GlufsTer10
XM_017011104.1:c.3797_3798del XP_016866593.1:p.Gly1266GlufsTer10
XM_017011105.2:c.3767_3768del XP_016866594.1:p.Gly1256GlufsTer10
XM_017011106.2:c.3638_3639del XP_016866595.1:p.Gly1213GlufsTer10
XM_017011107.2:c.3617_3618del XP_016866596.1:p.Gly1206GlufsTer10
XR_002956289.1:n.4009_4010del
NM_001363725.2:c.1466_1467del NP_001350654.1:p.Gly489GlufsTer10
NM_001371656.1:c.3845_3846del NP_001358585.1:p.Gly1282GlufsTer10
NM_001374820.1:c.3845_3846del NP_001361749.1:p.Gly1282GlufsTer10
NM_001374828.1:c.3965_3966del MANE Select NP_001361757.1:p.Gly1322GlufsTer10
NM_017519.3:c.3806_3807del NP_059989.3:p.Gly1269GlufsTer10