Canonical Allele Identifier: CA1139659893
Gene: ARID1B HGNC NCBI

Linked Data

ClinVar Variation Id: 977627
ClinVar RCV Id: RCV001255398

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.157190080_157190081del , CM000668.2:g.157190080_157190081del GRCh38
NC_000006.11:g.157511214_157511215del , CM000668.1:g.157511214_157511215del GRCh37
NC_000006.10:g.157552906_157552907del NCBI36
NG_032093.1:g.417151_417152del
NG_032093.2:g.417151_417152del
NG_066624.1:g.419055_419056del

Transcript Alleles

HGVS Amino-acid Change
ENST00000350026.11:c.3942_3943del ENSP00000055163.8:p.Ser1314ArgfsTer?
ENST00000414678.8:c.4011_4012del ENSP00000412835.3:p.Ser1337ArgfsTer?
ENST00000637015.2:c.4230_4231del ENSP00000489729.2:p.Ser1410ArgfsTer?
ENST00000346085.10:c.3981_3982del ENSP00000344546.5:p.Ser1327ArgfsTer?
ENST00000350026.10:c.3693_3694del ENSP00000055163.7:p.Ser1231ArgfsTer?
ENST00000414678.7:c.2259_2260del ENSP00000412835.2:p.Ser753ArgfsTer?
ENST00000635849.1:c.1422_1423del ENSP00000490948.1:p.Ser474ArgfsTer?
ENST00000635957.1:c.1053_1054del ENSP00000490385.1:p.Ser351ArgfsTer?
ENST00000636930.2:c.4101_4102del MANE Select ENSP00000490491.2:p.Ser1367ArgfsTer?
ENST00000636940.1:n.2098_2099del
ENST00000637015.1:c.1469_1470del
ENST00000637568.1:c.1383_1384del
ENST00000637741.1:n.767_768del
ENST00000637810.1:c.1443_1444del ENSP00000489636.1:p.Ser481ArgfsTer?
ENST00000637904.1:c.1602_1603del ENSP00000490550.1:p.Ser534ArgfsTer?
ENST00000647938.1:c.3732_3733del ENSP00000498155.1:p.Ser1244ArgfsTer?
ENST00000346085.9:c.3732_3733del ENSP00000344546.4:p.Ser1244ArgfsTer?
ENST00000350026.9:c.3693_3694del ENSP00000055163.7:p.Ser1231ArgfsTer?
ENST00000414678.6:c.2259_2260del ENSP00000412835.2:p.Ser753ArgfsTer?
NM_017519.2:c.3693_3694del NP_059989.2:p.Ser1231ArgfsTer?
NM_020732.3:c.3732_3733del NP_065783.3:p.Ser1244ArgfsTer?
XM_005267069.3:c.3852_3853del XP_005267126.2:p.Ser1284ArgfsTer?
XM_011535984.1:c.2931_2932del XP_011534286.1:p.Ser977ArgfsTer?
XM_011535985.1:c.2751_2752del XP_011534287.1:p.Ser917ArgfsTer?
XM_011535986.1:c.2511_2512del XP_011534288.1:p.Ser837ArgfsTer?
XM_011535987.1:c.2130_2131del XP_011534289.1:p.Ser710ArgfsTer?
XM_011535988.1:c.993_994del XP_011534290.1:p.Ser331ArgfsTer?
NM_001346813.1:c.3852_3853del NP_001333742.1:p.Ser1284ArgfsTer?
NM_001363725.1:c.1602_1603del NP_001350654.1:p.Ser534ArgfsTer?
XM_011535984.2:c.4062_4063del XP_011534286.2:p.Ser1354ArgfsTer?
XM_011535988.3:c.993_994del XP_011534290.1:p.Ser331ArgfsTer?
XM_017011103.2:c.3963_3964del XP_016866592.1:p.Ser1321ArgfsTer?
XM_017011104.1:c.3933_3934del XP_016866593.1:p.Ser1311ArgfsTer?
XM_017011105.2:c.3903_3904del XP_016866594.1:p.Ser1301ArgfsTer?
XM_017011106.2:c.3774_3775del XP_016866595.1:p.Ser1258ArgfsTer?
XM_017011107.2:c.3753_3754del XP_016866596.1:p.Ser1251ArgfsTer?
XR_002956289.1:n.4145_4146del
NM_001363725.2:c.1602_1603del NP_001350654.1:p.Ser534ArgfsTer?
NM_001371656.1:c.3981_3982del NP_001358585.1:p.Ser1327ArgfsTer?
NM_001374820.1:c.3981_3982del NP_001361749.1:p.Ser1327ArgfsTer?
NM_001374828.1:c.4101_4102del MANE Select NP_001361757.1:p.Ser1367ArgfsTer?
NM_017519.3:c.3942_3943del NP_059989.3:p.Ser1314ArgfsTer?