Canonical Allele Identifier: CA2976786797
Gene: CBL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119206545_119206546del , CM000673.2:g.119206545_119206546del GRCh38
NC_000011.9:g.119077255_119077256del , CM000673.1:g.119077255_119077256del GRCh37
NC_000011.8:g.118582465_118582466del NCBI36
NG_016808.1:g.5266_5267del , LRG_608:g.5266_5267del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700472.1:c.128_129del ENSP00000515005.1:p.Leu43GlnfsTer26
ENST00000264033.6:c.128_129del MANE Select ENSP00000264033.3:p.Leu43GlnfsTer?
ENST00000637974.1:c.122_123del ENSP00000490763.1:p.Leu41GlnfsTer?
ENST00000264033.5:c.128_129del ENSP00000264033.3:p.Leu43GlnfsTer?
ENST00000634586.1:c.128_129del ENSP00000489218.1:p.Leu43GlnfsTer?
ENST00000634840.1:c.128_129del ENSP00000489324.1:p.Leu43GlnfsTer?
NM_005188.3:c.128_129del , LRG_608t1:c.128_129del NP_005179.2:p.Leu43GlnfsTer?
XM_011543057.1:c.128_129del XP_011541359.1:p.Leu43GlnfsTer?
NM_005188.4:c.128_129del MANE Select NP_005179.2:p.Leu43GlnfsTer?