Canonical Allele Identifier: CA229662000
Gene: CBL HGNC NCBI

Linked Data

dbSNP Id: rs139629798

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119278549del , CM000673.2:g.119278549del GRCh38
NC_000011.9:g.119149259del , CM000673.1:g.119149259del GRCh37
NC_000011.8:g.118654469del NCBI36
NG_016808.1:g.77270del , LRG_608:g.77270del

Transcript Alleles

HGVS Amino-acid change
ENST00000700472.1:c.*719del ENSP00000515005.1:n.*719del
ENST00000264033.6:c.1267del MANE Select ENSP00000264033.3:p.Ile423LeufsTer9
ENST00000637974.1:c.1261del ENSP00000490763.1:p.Ile421LeufsTer9
ENST00000264033.5:c.1267del ENSP00000264033.3:p.Ile423LeufsTer9
ENST00000634586.1:c.1267del ENSP00000489218.1:p.Ile423LeufsTer9
ENST00000634840.1:c.1267del ENSP00000489324.1:p.Ile423LeufsTer9
NM_005188.3:c.1267del , LRG_608t1:c.1267del NP_005179.2:p.Ile423LeufsTer9
XM_011543057.1:c.1267del XP_011541359.1:p.Ile423LeufsTer9
NM_005188.4:c.1267del MANE Select NP_005179.2:p.Ile423LeufsTer9