Canonical Allele Identifier: CA2695198379
Gene: ARID1B HGNC NCBI

Linked Data

ClinVar Variation Id: 2631513
ClinVar RCV Id: RCV004528038

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.157190110_157190117del , CM000668.2:g.157190110_157190117del GRCh38
NC_000006.11:g.157511244_157511251del , CM000668.1:g.157511244_157511251del GRCh37
NC_000006.10:g.157552936_157552943del NCBI36
NG_032093.1:g.417181_417188del
NG_032093.2:g.417181_417188del
NG_066624.1:g.419085_419092del

Transcript Alleles

HGVS Amino-acid Change
ENST00000350026.11:c.3972_3979del ENSP00000055163.8:p.Met1324IlefsTer20
ENST00000414678.8:c.4041_4048del ENSP00000412835.3:p.Met1347IlefsTer20
ENST00000637015.2:c.4260_4267del ENSP00000489729.2:p.Met1420IlefsTer20
ENST00000346085.10:c.4011_4018del ENSP00000344546.5:p.Met1337IlefsTer20
ENST00000350026.10:c.3723_3730del ENSP00000055163.7:p.Met1241IlefsTer20
ENST00000414678.7:c.2289_2296del ENSP00000412835.2:p.Met763IlefsTer20
ENST00000635849.1:c.1452_1459del ENSP00000490948.1:p.Met484IlefsTer20
ENST00000635957.1:c.1083_1090del ENSP00000490385.1:p.Met361IlefsTer20
ENST00000636930.2:c.4131_4138del MANE Select ENSP00000490491.2:p.Met1377IlefsTer20
ENST00000636940.1:n.2128_2135del
ENST00000637015.1:c.1499_1506del
ENST00000637568.1:c.1413_1420del
ENST00000637741.1:n.797_804del
ENST00000637810.1:c.1473_1480del ENSP00000489636.1:p.Met491IlefsTer20
ENST00000637904.1:c.1632_1639del ENSP00000490550.1:p.Met544IlefsTer20
ENST00000647938.1:c.3762_3769del ENSP00000498155.1:p.Met1254IlefsTer20
ENST00000346085.9:c.3762_3769del ENSP00000344546.4:p.Met1254IlefsTer20
ENST00000350026.9:c.3723_3730del ENSP00000055163.7:p.Met1241IlefsTer20
ENST00000414678.6:c.2289_2296del ENSP00000412835.2:p.Met763IlefsTer20
NM_017519.2:c.3723_3730del NP_059989.2:p.Met1241IlefsTer20
NM_020732.3:c.3762_3769del NP_065783.3:p.Met1254IlefsTer20
XM_005267069.3:c.3882_3889del XP_005267126.2:p.Met1294IlefsTer20
XM_011535984.1:c.2961_2968del XP_011534286.1:p.Met987IlefsTer20
XM_011535985.1:c.2781_2788del XP_011534287.1:p.Met927IlefsTer20
XM_011535986.1:c.2541_2548del XP_011534288.1:p.Met847IlefsTer20
XM_011535987.1:c.2160_2167del XP_011534289.1:p.Met720IlefsTer20
XM_011535988.1:c.1023_1030del XP_011534290.1:p.Met341IlefsTer20
NM_001346813.1:c.3882_3889del NP_001333742.1:p.Met1294IlefsTer20
NM_001363725.1:c.1632_1639del NP_001350654.1:p.Met544IlefsTer20
XM_011535984.2:c.4092_4099del XP_011534286.2:p.Met1364IlefsTer20
XM_011535988.3:c.1023_1030del XP_011534290.1:p.Met341IlefsTer20
XM_017011103.2:c.3993_4000del XP_016866592.1:p.Met1331IlefsTer20
XM_017011104.1:c.3963_3970del XP_016866593.1:p.Met1321IlefsTer20
XM_017011105.2:c.3933_3940del XP_016866594.1:p.Met1311IlefsTer20
XM_017011106.2:c.3804_3811del XP_016866595.1:p.Met1268IlefsTer20
XM_017011107.2:c.3783_3790del XP_016866596.1:p.Met1261IlefsTer20
XR_002956289.1:n.4175_4182del
NM_001363725.2:c.1632_1639del NP_001350654.1:p.Met544IlefsTer20
NM_001371656.1:c.4011_4018del NP_001358585.1:p.Met1337IlefsTer20
NM_001374820.1:c.4011_4018del NP_001361749.1:p.Met1337IlefsTer20
NM_001374828.1:c.4131_4138del MANE Select NP_001361757.1:p.Met1377IlefsTer20
NM_017519.3:c.3972_3979del NP_059989.3:p.Met1324IlefsTer20