Canonical Allele Identifier: CA118076
Gene: BCL10 HGNC NCBI

Linked Data

ClinVar Variation Id: 6263
ClinVar RCV Id: RCV000006641
dbSNP Id: rs387906351
COSMIC: COSM391505

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.85270835del , CM000663.2:g.85270835del GRCh38
NC_000001.10:g.85736518del , CM000663.1:g.85736518del GRCh37
NC_000001.9:g.85509106del NCBI36
NG_012216.1:g.12073del
NG_012216.2:g.11077del

Transcript Alleles

HGVS Amino-acid Change
ENST00000620248.3:c.136del ENSP00000480561.2:p.Ile46TyrfsTer24
ENST00000620248.2:c.136del ENSP00000480561.2:p.Ile46TyrfsTer24
ENST00000648566.1:c.136del MANE Select ENSP00000498104.1:p.Ile46TyrfsTer24
ENST00000649060.1:c.*1245del ENSP00000497490.1:n.*1245del
ENST00000649434.1:n.202del
ENST00000650582.1:n.667del
ENST00000370580.5:c.136del ENSP00000359612.1:p.Ile46TyrfsTer24
ENST00000620248.1:c.136del ENSP00000480561.1:p.Ile46TyrfsTer24
NM_003921.4:c.136del NP_003912.1:p.Ile46TyrfsTer24
XM_005271311.2:c.136del XP_005271368.1:p.Ile46TyrfsTer24
XM_011542397.1:c.295del XP_011540699.1:p.Ile99TyrfsTer24
XM_011542398.1:c.295del XP_011540700.1:p.Ile99TyrfsTer24
XM_011542399.1:c.82del XP_011540701.1:p.Ile28TyrfsTer24
NM_001320715.1:c.136del NP_001307644.1:p.Ile46TyrfsTer24
NM_003921.5:c.136del MANE Select NP_003912.1:p.Ile46TyrfsTer24
XM_011542397.3:c.295del XP_011540699.1:p.Ile99TyrfsTer24
XM_011542398.2:c.295del XP_011540700.1:p.Ile99TyrfsTer24
XM_011542399.2:c.82del XP_011540701.1:p.Ile28TyrfsTer24
NM_001320715.2:c.136del NP_001307644.1:p.Ile46TyrfsTer24