Canonical Allele Identifier: CA645372829
Gene: ARID1B HGNC NCBI

Linked Data

ClinVar Variation Id: 432252
ClinVar RCV Id: RCV000498967
dbSNP Id: rs1554231260

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.157181142_157181143del , CM000668.2:g.157181142_157181143del GRCh38
NC_000006.11:g.157502276_157502277del , CM000668.1:g.157502276_157502277del GRCh37
NC_000006.10:g.157543968_157543969del NCBI36
NG_032093.1:g.408213_408214del
NG_032093.2:g.408213_408214del
NG_066624.1:g.410117_410118del

Transcript Alleles

HGVS Amino-acid Change
ENST00000350026.11:c.3519_3520del ENSP00000055163.8:p.Tyr1174ArgfsTer13
ENST00000414678.8:c.3588_3589del ENSP00000412835.3:p.Tyr1197ArgfsTer13
ENST00000637015.2:c.3807_3808del ENSP00000489729.2:p.Tyr1270ArgfsTer13
ENST00000319584.11:c.1692_1693del ENSP00000313006.7:p.Tyr565ArgfsTer13
ENST00000346085.10:c.3558_3559del ENSP00000344546.5:p.Tyr1187ArgfsTer13
ENST00000350026.10:c.3270_3271del ENSP00000055163.7:p.Tyr1091ArgfsTer13
ENST00000414678.7:c.1836_1837del ENSP00000412835.2:p.Tyr613ArgfsTer13
ENST00000635849.1:c.999_1000del ENSP00000490948.1:p.Tyr334ArgfsTer13
ENST00000635957.1:c.633_634del ENSP00000490385.1:p.Tyr212ArgfsTer13
ENST00000636930.2:c.3678_3679del MANE Select ENSP00000490491.2:p.Tyr1227ArgfsTer13
ENST00000636940.1:n.1675_1676del
ENST00000637015.1:c.1046_1047del
ENST00000637568.1:c.960_961del
ENST00000637741.1:n.344_345del
ENST00000637810.1:c.1020_1021del ENSP00000489636.1:p.Tyr341ArgfsTer13
ENST00000637904.1:c.1179_1180del ENSP00000490550.1:p.Tyr394ArgfsTer13
ENST00000647938.1:c.3309_3310del ENSP00000498155.1:p.Tyr1104ArgfsTer13
ENST00000319584.10:c.1695_1696del ENSP00000313006.6:p.Tyr566ArgfsTer13
ENST00000346085.9:c.3309_3310del ENSP00000344546.4:p.Tyr1104ArgfsTer13
ENST00000350026.9:c.3270_3271del ENSP00000055163.7:p.Tyr1091ArgfsTer13
ENST00000400790.3:c.471_472del ENSP00000383596.3:p.Tyr158ArgfsTer13
ENST00000414678.6:c.1836_1837del ENSP00000412835.2:p.Tyr613ArgfsTer13
ENST00000478761.3:c.880_881del
NM_017519.2:c.3270_3271del NP_059989.2:p.Tyr1091ArgfsTer13
NM_020732.3:c.3309_3310del NP_065783.3:p.Tyr1104ArgfsTer13
XM_005267069.3:c.3429_3430del XP_005267126.2:p.Tyr1144ArgfsTer13
XM_011535984.1:c.2508_2509del XP_011534286.1:p.Tyr837ArgfsTer13
XM_011535985.1:c.2328_2329del XP_011534287.1:p.Tyr777ArgfsTer13
XM_011535986.1:c.2088_2089del XP_011534288.1:p.Tyr697ArgfsTer13
XM_011535987.1:c.1707_1708del XP_011534289.1:p.Tyr570ArgfsTer13
XM_011535988.1:c.570_571del XP_011534290.1:p.Tyr191ArgfsTer13
NM_001346813.1:c.3429_3430del NP_001333742.1:p.Tyr1144ArgfsTer13
NM_001363725.1:c.1179_1180del NP_001350654.1:p.Tyr394ArgfsTer13
XM_011535984.2:c.3639_3640del XP_011534286.2:p.Tyr1214ArgfsTer13
XM_011535988.3:c.570_571del XP_011534290.1:p.Tyr191ArgfsTer13
XM_017011103.2:c.3540_3541del XP_016866592.1:p.Tyr1181ArgfsTer13
XM_017011104.1:c.3510_3511del XP_016866593.1:p.Tyr1171ArgfsTer13
XM_017011105.2:c.3480_3481del XP_016866594.1:p.Tyr1161ArgfsTer13
XM_017011106.2:c.3351_3352del XP_016866595.1:p.Tyr1118ArgfsTer13
XM_017011107.2:c.3330_3331del XP_016866596.1:p.Tyr1111ArgfsTer13
XR_002956289.1:n.3722_3723del
NM_001363725.2:c.1179_1180del NP_001350654.1:p.Tyr394ArgfsTer13
NM_001371656.1:c.3558_3559del NP_001358585.1:p.Tyr1187ArgfsTer13
NM_001374820.1:c.3558_3559del NP_001361749.1:p.Tyr1187ArgfsTer13
NM_001374828.1:c.3678_3679del MANE Select NP_001361757.1:p.Tyr1227ArgfsTer13
NM_017519.3:c.3519_3520del NP_059989.3:p.Tyr1174ArgfsTer13