Canonical Allele Identifier: CA2575031963
Gene: CBL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119278474_119278482del , CM000673.2:g.119278474_119278482del GRCh38
NC_000011.9:g.119149184_119149192del , CM000673.1:g.119149184_119149192del GRCh37
NC_000011.8:g.118654394_118654402del NCBI36
NG_016808.1:g.77195_77203del , LRG_608:g.77195_77203del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700472.1:c.*680-36_*680-28del ENSP00000515005.1:n.*680-36_*680-28del
ENST00000264033.6:c.1228-36_1228-28del MANE Select ENSP00000264033.3:n.1228-36_1228-28del
ENST00000637974.1:c.1222-36_1222-28del ENSP00000490763.1:n.1222-36_1222-28del
ENST00000264033.5:c.1228-36_1228-28del ENSP00000264033.3:n.1228-36_1228-28del
ENST00000634586.1:c.1228-36_1228-28del ENSP00000489218.1:n.1228-36_1228-28del
ENST00000634840.1:c.1228-36_1228-28del ENSP00000489324.1:n.1228-36_1228-28del
NM_005188.3:c.1228-36_1228-28del , LRG_608t1:c.1228-36_1228-28del NP_005179.2:n.1228-36_1228-28del
XM_011543057.1:c.1228-36_1228-28del XP_011541359.1:n.1228-36_1228-28del
NM_005188.4:c.1228-36_1228-28del MANE Select NP_005179.2:n.1228-36_1228-28del