Canonical Allele Identifier: CA645509171
Gene: ARID1B HGNC NCBI

Linked Data

ClinVar Variation Id: 438279
ClinVar RCV Id: RCV000505251
dbSNP Id: rs1554294698

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.157084882dup , CM000668.2:g.157084882dup GRCh38
NC_000006.11:g.157406016dup , CM000668.1:g.157406016dup GRCh37
NC_000006.10:g.157447708dup NCBI36
NG_032093.1:g.311953dup
NG_032093.2:g.311953dup
NG_066624.1:g.313857dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000350026.11:c.2468dup ENSP00000055163.8:p.Ile824AsnfsTer9
ENST00000414678.8:c.2468dup ENSP00000412835.3:p.Ile824AsnfsTer?
ENST00000637015.2:c.2468dup ENSP00000489729.2:p.Ile824AsnfsTer9
ENST00000319584.11:c.482dup ENSP00000313006.7:p.Ile162AsnfsTer9
ENST00000346085.10:c.2507dup ENSP00000344546.5:p.Ile837AsnfsTer9
ENST00000350026.10:c.2219dup ENSP00000055163.7:p.Ile741AsnfsTer9
ENST00000414678.7:c.716dup ENSP00000412835.2:p.Ile240AsnfsTer?
ENST00000452544.2:n.369dup
ENST00000493658.2:n.117dup
ENST00000635849.1:c.-32dup ENSP00000490948.1:n.-32dup
ENST00000636930.2:c.2468dup MANE Select ENSP00000490491.2:p.Ile824AsnfsTer9
ENST00000637003.1:c.-32dup ENSP00000489666.1:n.-32dup
ENST00000637810.1:c.-32dup ENSP00000489636.1:n.-32dup
ENST00000637904.1:c.-32dup ENSP00000490550.1:n.-32dup
ENST00000647938.1:c.2258dup ENSP00000498155.1:p.Ile754AsnfsTer9
ENST00000674190.1:n.1217dup
ENST00000319584.10:c.485dup ENSP00000313006.6:p.Ile163AsnfsTer9
ENST00000346085.9:c.2258dup ENSP00000344546.4:p.Ile754AsnfsTer9
ENST00000350026.9:c.2219dup ENSP00000055163.7:p.Ile741AsnfsTer9
ENST00000414678.6:c.716dup ENSP00000412835.2:p.Ile240AsnfsTer?
ENST00000452544.1:n.327dup
ENST00000493658.1:n.117dup
NM_017519.2:c.2219dup NP_059989.2:p.Ile741AsnfsTer9
NM_020732.3:c.2258dup NP_065783.3:p.Ile754AsnfsTer9
XM_005267069.3:c.2219dup XP_005267126.2:p.Ile741AsnfsTer9
XM_011535984.1:c.1169dup XP_011534286.1:p.Ile391AsnfsTer9
XM_011535985.1:c.1169dup XP_011534287.1:p.Ile391AsnfsTer9
XM_011535986.1:c.749dup XP_011534288.1:p.Ile251AsnfsTer9
XM_011535987.1:c.368dup XP_011534289.1:p.Ile124AsnfsTer9
NM_001346813.1:c.2219dup NP_001333742.1:p.Ile741AsnfsTer9
NM_001363725.1:c.-32dup NP_001350654.1:n.-32dup
XM_011535984.2:c.2300dup XP_011534286.2:p.Ile768AsnfsTer9
XM_017011103.2:c.2300dup XP_016866592.1:p.Ile768AsnfsTer9
XM_017011104.1:c.2300dup XP_016866593.1:p.Ile768AsnfsTer9
XM_017011105.2:c.2300dup XP_016866594.1:p.Ile768AsnfsTer9
XM_017011106.2:c.2300dup XP_016866595.1:p.Ile768AsnfsTer9
XM_017011107.2:c.2300dup XP_016866596.1:p.Ile768AsnfsTer9
XR_002956289.1:n.2383dup
NM_001363725.2:c.-32dup NP_001350654.1:n.-32dup
NM_001371656.1:c.2507dup NP_001358585.1:p.Ile837AsnfsTer9
NM_001374820.1:c.2507dup NP_001361749.1:p.Ile837AsnfsTer9
NM_001374828.1:c.2468dup MANE Select NP_001361757.1:p.Ile824AsnfsTer9
NM_017519.3:c.2468dup NP_059989.3:p.Ile824AsnfsTer9