Canonical Allele Identifier: CA10602974
Gene: ARID1B HGNC NCBI

Linked Data

ClinVar Variation Id: 280257
ClinVar RCV Id: RCV000398804
dbSNP Id: rs886041493

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.157184405_157184406del , CM000668.2:g.157184405_157184406del GRCh38
NC_000006.11:g.157505539_157505540del , CM000668.1:g.157505539_157505540del GRCh37
NC_000006.10:g.157547231_157547232del NCBI36
NG_032093.1:g.411476_411477del
NG_032093.2:g.411476_411477del
NG_066624.1:g.413380_413381del

Transcript Alleles

HGVS Amino-acid change
ENST00000350026.11:c.3730_3731del ENSP00000055163.8:p.Lys1244AlafsTer11
ENST00000414678.8:c.3799_3800del ENSP00000412835.3:p.Lys1267AlafsTer11
ENST00000637015.2:c.4018_4019del ENSP00000489729.2:p.Lys1340AlafsTer11
ENST00000319584.11:c.1903_1904del ENSP00000313006.7:p.Lys635AlafsTer19
ENST00000346085.10:c.3769_3770del ENSP00000344546.5:p.Lys1257AlafsTer11
ENST00000350026.10:c.3481_3482del ENSP00000055163.7:p.Lys1161AlafsTer11
ENST00000414678.7:c.2047_2048del ENSP00000412835.2:p.Lys683AlafsTer11
ENST00000635849.1:c.1210_1211del ENSP00000490948.1:p.Lys404AlafsTer11
ENST00000635957.1:c.844_845del ENSP00000490385.1:p.Lys282AlafsTer11
ENST00000636930.2:c.3889_3890del MANE Select ENSP00000490491.2:p.Lys1297AlafsTer11
ENST00000636940.1:n.1886_1887del
ENST00000637015.1:c.1257_1258del
ENST00000637568.1:c.1171_1172del
ENST00000637741.1:n.555_556del
ENST00000637810.1:c.1231_1232del ENSP00000489636.1:p.Lys411AlafsTer11
ENST00000637904.1:c.1390_1391del ENSP00000490550.1:p.Lys464AlafsTer11
ENST00000647938.1:c.3520_3521del ENSP00000498155.1:p.Lys1174AlafsTer11
ENST00000319584.10:c.1906_1907del ENSP00000313006.6:p.Lys636AlafsTer19
ENST00000346085.9:c.3520_3521del ENSP00000344546.4:p.Lys1174AlafsTer11
ENST00000350026.9:c.3481_3482del ENSP00000055163.7:p.Lys1161AlafsTer11
ENST00000400790.3:c.682_683del ENSP00000383596.3:p.Lys228AlafsTer11
ENST00000414678.6:c.2047_2048del ENSP00000412835.2:p.Lys683AlafsTer11
NM_017519.2:c.3481_3482del NP_059989.2:p.Lys1161AlafsTer11
NM_020732.3:c.3520_3521del NP_065783.3:p.Lys1174AlafsTer11
XM_005267069.3:c.3640_3641del XP_005267126.2:p.Lys1214AlafsTer11
XM_011535984.1:c.2719_2720del XP_011534286.1:p.Lys907AlafsTer11
XM_011535985.1:c.2539_2540del XP_011534287.1:p.Lys847AlafsTer11
XM_011535986.1:c.2299_2300del XP_011534288.1:p.Lys767AlafsTer11
XM_011535987.1:c.1918_1919del XP_011534289.1:p.Lys640AlafsTer11
XM_011535988.1:c.781_782del XP_011534290.1:p.Lys261AlafsTer11
NM_001346813.1:c.3640_3641del NP_001333742.1:p.Lys1214AlafsTer11
NM_001363725.1:c.1390_1391del NP_001350654.1:p.Lys464AlafsTer11
XM_011535984.2:c.3850_3851del XP_011534286.2:p.Lys1284AlafsTer11
XM_011535988.3:c.781_782del XP_011534290.1:p.Lys261AlafsTer11
XM_017011103.2:c.3751_3752del XP_016866592.1:p.Lys1251AlafsTer11
XM_017011104.1:c.3721_3722del XP_016866593.1:p.Lys1241AlafsTer11
XM_017011105.2:c.3691_3692del XP_016866594.1:p.Lys1231AlafsTer11
XM_017011106.2:c.3562_3563del XP_016866595.1:p.Lys1188AlafsTer11
XM_017011107.2:c.3541_3542del XP_016866596.1:p.Lys1181AlafsTer11
XR_002956289.1:n.3933_3934del
NM_001363725.2:c.1390_1391del NP_001350654.1:p.Lys464AlafsTer11
NM_001371656.1:c.3769_3770del NP_001358585.1:p.Lys1257AlafsTer11
NM_001374820.1:c.3769_3770del NP_001361749.1:p.Lys1257AlafsTer11
NM_001374828.1:c.3889_3890del MANE Select NP_001361757.1:p.Lys1297AlafsTer11
NM_017519.3:c.3730_3731del NP_059989.3:p.Lys1244AlafsTer11