Canonical Allele Identifier: CA1139659892
Gene: ARID1B HGNC NCBI

Linked Data

ClinVar Variation Id: 987410
ClinVar RCV Id: RCV001268767
dbSNP Id: rs1793246524

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.157190064_157190068del , CM000668.2:g.157190064_157190068del GRCh38
NC_000006.11:g.157511198_157511202del , CM000668.1:g.157511198_157511202del GRCh37
NC_000006.10:g.157552890_157552894del NCBI36
NG_032093.1:g.417135_417139del
NG_032093.2:g.417135_417139del
NG_066624.1:g.419039_419043del

Transcript Alleles

HGVS Amino-acid Change
ENST00000350026.11:c.3926_3930del ENSP00000055163.8:p.Pro1309LeufsTer5
ENST00000414678.8:c.3995_3999del ENSP00000412835.3:p.Pro1332LeufsTer5
ENST00000637015.2:c.4214_4218del ENSP00000489729.2:p.Pro1405LeufsTer5
ENST00000346085.10:c.3965_3969del ENSP00000344546.5:p.Pro1322LeufsTer5
ENST00000350026.10:c.3677_3681del ENSP00000055163.7:p.Pro1226LeufsTer5
ENST00000414678.7:c.2243_2247del ENSP00000412835.2:p.Pro748LeufsTer5
ENST00000635849.1:c.1406_1410del ENSP00000490948.1:p.Pro469LeufsTer5
ENST00000635957.1:c.1037_1041del ENSP00000490385.1:p.Pro346LeufsTer5
ENST00000636930.2:c.4085_4089del MANE Select ENSP00000490491.2:p.Pro1362LeufsTer5
ENST00000636940.1:n.2082_2086del
ENST00000637015.1:c.1453_1457del
ENST00000637568.1:c.1367_1371del
ENST00000637741.1:n.751_755del
ENST00000637810.1:c.1427_1431del ENSP00000489636.1:p.Pro476LeufsTer5
ENST00000637904.1:c.1586_1590del ENSP00000490550.1:p.Pro529LeufsTer5
ENST00000647938.1:c.3716_3720del ENSP00000498155.1:p.Pro1239LeufsTer5
ENST00000346085.9:c.3716_3720del ENSP00000344546.4:p.Pro1239LeufsTer5
ENST00000350026.9:c.3677_3681del ENSP00000055163.7:p.Pro1226LeufsTer5
ENST00000414678.6:c.2243_2247del ENSP00000412835.2:p.Pro748LeufsTer5
NM_017519.2:c.3677_3681del NP_059989.2:p.Pro1226LeufsTer5
NM_020732.3:c.3716_3720del NP_065783.3:p.Pro1239LeufsTer5
XM_005267069.3:c.3836_3840del XP_005267126.2:p.Pro1279LeufsTer5
XM_011535984.1:c.2915_2919del XP_011534286.1:p.Pro972LeufsTer5
XM_011535985.1:c.2735_2739del XP_011534287.1:p.Pro912LeufsTer5
XM_011535986.1:c.2495_2499del XP_011534288.1:p.Pro832LeufsTer5
XM_011535987.1:c.2114_2118del XP_011534289.1:p.Pro705LeufsTer5
XM_011535988.1:c.977_981del XP_011534290.1:p.Pro326LeufsTer5
NM_001346813.1:c.3836_3840del NP_001333742.1:p.Pro1279LeufsTer5
NM_001363725.1:c.1586_1590del NP_001350654.1:p.Pro529LeufsTer5
XM_011535984.2:c.4046_4050del XP_011534286.2:p.Pro1349LeufsTer5
XM_011535988.3:c.977_981del XP_011534290.1:p.Pro326LeufsTer5
XM_017011103.2:c.3947_3951del XP_016866592.1:p.Pro1316LeufsTer5
XM_017011104.1:c.3917_3921del XP_016866593.1:p.Pro1306LeufsTer5
XM_017011105.2:c.3887_3891del XP_016866594.1:p.Pro1296LeufsTer5
XM_017011106.2:c.3758_3762del XP_016866595.1:p.Pro1253LeufsTer5
XM_017011107.2:c.3737_3741del XP_016866596.1:p.Pro1246LeufsTer5
XR_002956289.1:n.4129_4133del
NM_001363725.2:c.1586_1590del NP_001350654.1:p.Pro529LeufsTer5
NM_001371656.1:c.3965_3969del NP_001358585.1:p.Pro1322LeufsTer5
NM_001374820.1:c.3965_3969del NP_001361749.1:p.Pro1322LeufsTer5
NM_001374828.1:c.4085_4089del MANE Select NP_001361757.1:p.Pro1362LeufsTer5
NM_017519.3:c.3926_3930del NP_059989.3:p.Pro1309LeufsTer5