Canonical Allele Identifier: CA1139659891
Gene: ARID1B HGNC NCBI

Linked Data

ClinVar Variation Id: 985672
ClinVar RCV Id: RCV001266701
dbSNP Id: rs1793228690

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.157189772del , CM000668.2:g.157189772del GRCh38
NC_000006.11:g.157510906del , CM000668.1:g.157510906del GRCh37
NC_000006.10:g.157552598del NCBI36
NG_032093.1:g.416843del
NG_032093.2:g.416843del
NG_066624.1:g.418747del

Transcript Alleles

HGVS Amino-acid Change
ENST00000350026.11:c.3891del ENSP00000055163.8:p.Gly1298ValfsTer16
ENST00000414678.8:c.3960del ENSP00000412835.3:p.Gly1321ValfsTer16
ENST00000637015.2:c.4179del ENSP00000489729.2:p.Gly1394ValfsTer16
ENST00000346085.10:c.3930del ENSP00000344546.5:p.Gly1311ValfsTer16
ENST00000350026.10:c.3642del ENSP00000055163.7:p.Gly1215ValfsTer16
ENST00000414678.7:c.2208del ENSP00000412835.2:p.Gly737ValfsTer16
ENST00000635849.1:c.1371del ENSP00000490948.1:p.Gly458ValfsTer16
ENST00000635957.1:c.1005del ENSP00000490385.1:p.Gly336ValfsTer15
ENST00000636930.2:c.4050del MANE Select ENSP00000490491.2:p.Gly1351ValfsTer16
ENST00000636940.1:n.2047del
ENST00000637015.1:c.1418del
ENST00000637568.1:c.1332del
ENST00000637741.1:n.716del
ENST00000637810.1:c.1392del ENSP00000489636.1:p.Gly465ValfsTer16
ENST00000637904.1:c.1551del ENSP00000490550.1:p.Gly518ValfsTer16
ENST00000647938.1:c.3681del ENSP00000498155.1:p.Gly1228ValfsTer16
ENST00000346085.9:c.3681del ENSP00000344546.4:p.Gly1228ValfsTer16
ENST00000350026.9:c.3642del ENSP00000055163.7:p.Gly1215ValfsTer16
ENST00000414678.6:c.2208del ENSP00000412835.2:p.Gly737ValfsTer16
NM_017519.2:c.3642del NP_059989.2:p.Gly1215ValfsTer16
NM_020732.3:c.3681del NP_065783.3:p.Gly1228ValfsTer16
XM_005267069.3:c.3801del XP_005267126.2:p.Gly1268ValfsTer16
XM_011535984.1:c.2880del XP_011534286.1:p.Gly961ValfsTer16
XM_011535985.1:c.2700del XP_011534287.1:p.Gly901ValfsTer16
XM_011535986.1:c.2460del XP_011534288.1:p.Gly821ValfsTer16
XM_011535987.1:c.2079del XP_011534289.1:p.Gly694ValfsTer16
XM_011535988.1:c.942del XP_011534290.1:p.Gly315ValfsTer16
NM_001346813.1:c.3801del NP_001333742.1:p.Gly1268ValfsTer16
NM_001363725.1:c.1551del NP_001350654.1:p.Gly518ValfsTer16
XM_011535984.2:c.4011del XP_011534286.2:p.Gly1338ValfsTer16
XM_011535988.3:c.942del XP_011534290.1:p.Gly315ValfsTer16
XM_017011103.2:c.3912del XP_016866592.1:p.Gly1305ValfsTer16
XM_017011104.1:c.3882del XP_016866593.1:p.Gly1295ValfsTer16
XM_017011105.2:c.3852del XP_016866594.1:p.Gly1285ValfsTer16
XM_017011106.2:c.3723del XP_016866595.1:p.Gly1242ValfsTer16
XM_017011107.2:c.3702del XP_016866596.1:p.Gly1235ValfsTer16
XR_002956289.1:n.4094del
NM_001363725.2:c.1551del NP_001350654.1:p.Gly518ValfsTer16
NM_001371656.1:c.3930del NP_001358585.1:p.Gly1311ValfsTer16
NM_001374820.1:c.3930del NP_001361749.1:p.Gly1311ValfsTer16
NM_001374828.1:c.4050del MANE Select NP_001361757.1:p.Gly1351ValfsTer16
NM_017519.3:c.3891del NP_059989.3:p.Gly1298ValfsTer16