Canonical Allele Identifier: CA2580075315
Gene: ARID1B HGNC NCBI

Linked Data

ClinVar Variation Id: 1706596
ClinVar RCV Id: RCV002285205

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.157200995_157200996dup , CM000668.2:g.157200995_157200996dup GRCh38
NC_000006.11:g.157522129_157522130dup , CM000668.1:g.157522129_157522130dup GRCh37
NC_000006.10:g.157563821_157563822dup NCBI36
NG_032093.1:g.428066_428067dup
NG_032093.2:g.428066_428067dup
NG_066624.1:g.429970_429971dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000350026.11:c.4611_4612dup ENSP00000055163.8:p.Arg1538HisfsTer27
ENST00000414678.8:c.4680_4681dup ENSP00000412835.3:p.Arg1561HisfsTer27
ENST00000637015.2:c.4899_4900dup ENSP00000489729.2:p.Arg1634HisfsTer27
ENST00000346085.10:c.4650_4651dup ENSP00000344546.5:p.Arg1551HisfsTer27
ENST00000350026.10:c.4362_4363dup ENSP00000055163.7:p.Arg1455HisfsTer27
ENST00000414678.7:c.2928_2929dup ENSP00000412835.2:p.Arg977HisfsTer27
ENST00000635849.1:c.2091_2092dup ENSP00000490948.1:p.Arg698HisfsTer27
ENST00000635957.1:c.1722_1723dup ENSP00000490385.1:p.Arg575HisfsTer27
ENST00000636227.1:n.3233_3234dup
ENST00000636254.1:n.690_691dup
ENST00000636930.2:c.4770_4771dup MANE Select ENSP00000490491.2:p.Arg1591HisfsTer27
ENST00000636940.1:n.2767_2768dup
ENST00000637015.1:c.2138_2139dup
ENST00000637568.1:c.2052_2053dup
ENST00000637741.1:n.1436_1437dup
ENST00000637810.1:c.2112_2113dup ENSP00000489636.1:p.Arg705HisfsTer27
ENST00000637904.1:c.2271_2272dup ENSP00000490550.1:p.Arg758HisfsTer27
ENST00000647938.1:c.4401_4402dup ENSP00000498155.1:p.Arg1468HisfsTer27
ENST00000346085.9:c.4401_4402dup ENSP00000344546.4:p.Arg1468HisfsTer27
ENST00000350026.9:c.4362_4363dup ENSP00000055163.7:p.Arg1455HisfsTer27
ENST00000414678.6:c.2928_2929dup ENSP00000412835.2:p.Arg977HisfsTer27
NM_017519.2:c.4362_4363dup NP_059989.2:p.Arg1455HisfsTer27
NM_020732.3:c.4401_4402dup NP_065783.3:p.Arg1468HisfsTer27
XM_005267069.3:c.4521_4522dup XP_005267126.2:p.Arg1508HisfsTer27
XM_011535984.1:c.3600_3601dup XP_011534286.1:p.Arg1201HisfsTer27
XM_011535985.1:c.3420_3421dup XP_011534287.1:p.Arg1141HisfsTer27
XM_011535986.1:c.3180_3181dup XP_011534288.1:p.Arg1061HisfsTer27
XM_011535987.1:c.2799_2800dup XP_011534289.1:p.Arg934HisfsTer27
XM_011535988.1:c.1662_1663dup XP_011534290.1:p.Arg555HisfsTer27
NM_001346813.1:c.4521_4522dup NP_001333742.1:p.Arg1508HisfsTer27
NM_001363725.1:c.2271_2272dup NP_001350654.1:p.Arg758HisfsTer27
XM_011535984.2:c.4731_4732dup XP_011534286.2:p.Arg1578HisfsTer27
XM_011535988.3:c.1662_1663dup XP_011534290.1:p.Arg555HisfsTer27
XM_017011103.2:c.4632_4633dup XP_016866592.1:p.Arg1545HisfsTer27
XM_017011104.1:c.4602_4603dup XP_016866593.1:p.Arg1535HisfsTer27
XM_017011105.2:c.4572_4573dup XP_016866594.1:p.Arg1525HisfsTer27
XM_017011106.2:c.4443_4444dup XP_016866595.1:p.Arg1482HisfsTer27
XM_017011107.2:c.4422_4423dup XP_016866596.1:p.Arg1475HisfsTer27
XR_002956289.1:n.4717_4718dup
NM_001363725.2:c.2271_2272dup NP_001350654.1:p.Arg758HisfsTer27
NM_001371656.1:c.4650_4651dup NP_001358585.1:p.Arg1551HisfsTer27
NM_001374820.1:c.4650_4651dup NP_001361749.1:p.Arg1551HisfsTer27
NM_001374828.1:c.4770_4771dup MANE Select NP_001361757.1:p.Arg1591HisfsTer27
NM_017519.3:c.4611_4612dup NP_059989.3:p.Arg1538HisfsTer27