Canonical Allele Identifier: CA645576447
Gene: CBL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119278549_119278563del , CM000673.2:g.119278549_119278563del GRCh38
NC_000011.9:g.119149259_119149273del , CM000673.1:g.119149259_119149273del GRCh37
NC_000011.8:g.118654469_118654483del NCBI36
NG_016808.1:g.77270_77284del , LRG_608:g.77270_77284del

Transcript Alleles

HGVS Amino-acid change
ENST00000700472.1:c.*719_*733del ENSP00000515005.1:n.*719_*733del
ENST00000264033.6:c.1267_1281del MANE Select ENSP00000264033.3:p.Ile423_Glu427del
ENST00000637974.1:c.1261_1275del ENSP00000490763.1:p.Ile421_Glu425del
ENST00000264033.5:c.1267_1281del ENSP00000264033.3:p.Ile423_Glu427del
ENST00000634586.1:c.1267_1281del ENSP00000489218.1:p.Ile423_Glu427del
ENST00000634840.1:c.1267_1281del ENSP00000489324.1:p.Ile423_Glu427del
NM_005188.3:c.1267_1281del , LRG_608t1:c.1267_1281del NP_005179.2:p.Ile423_Glu427del
XM_011543057.1:c.1267_1281del XP_011541359.1:p.Ile423_Glu427del
NM_005188.4:c.1267_1281del MANE Select NP_005179.2:p.Ile423_Glu427del