Canonical Allele Identifier: CA2575031981
Gene: CBL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119278552_119278584del , CM000673.2:g.119278552_119278584del GRCh38
NC_000011.9:g.119149262_119149294del , CM000673.1:g.119149262_119149294del GRCh37
NC_000011.8:g.118654472_118654504del NCBI36
NG_016808.1:g.77273_77305del , LRG_608:g.77273_77305del

Transcript Alleles

HGVS Amino-acid change
ENST00000700472.1:c.*722_*754del ENSP00000515005.1:n.*722_*754del
ENST00000264033.6:c.1270_1302del MANE Select ENSP00000264033.3:p.Lys424_Phe434del
ENST00000637974.1:c.1264_1296del ENSP00000490763.1:p.Lys422_Phe432del
ENST00000264033.5:c.1270_1302del ENSP00000264033.3:p.Lys424_Phe434del
ENST00000634586.1:c.1270_1302del ENSP00000489218.1:p.Lys424_Phe434del
ENST00000634840.1:c.1270_1302del ENSP00000489324.1:p.Lys424_Phe434del
NM_005188.3:c.1270_1302del , LRG_608t1:c.1270_1302del NP_005179.2:p.Lys424_Phe434del
XM_011543057.1:c.1270_1302del XP_011541359.1:p.Lys424_Phe434del
NM_005188.4:c.1270_1302del MANE Select NP_005179.2:p.Lys424_Phe434del