Canonical Allele Identifier: CA2575031955
Gene: CBL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119278445_119278446insATATAT , CM000673.2:g.119278445_119278446insATATAT GRCh38
NC_000011.9:g.119149155_119149156insATATAT , CM000673.1:g.119149155_119149156insATATAT GRCh37
NC_000011.8:g.118654365_118654366insATATAT NCBI36
NG_016808.1:g.77166_77167insATATAT , LRG_608:g.77166_77167insATATAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000700472.1:c.*680-65_*680-64insATATAT ENSP00000515005.1:n.*680-65_*680-64insATATAT
ENST00000264033.6:c.1228-65_1228-64insATATAT MANE Select ENSP00000264033.3:n.1228-65_1228-64insATATAT
ENST00000637974.1:c.1222-65_1222-64insATATAT ENSP00000490763.1:n.1222-65_1222-64insATATAT
ENST00000264033.5:c.1228-65_1228-64insATATAT ENSP00000264033.3:n.1228-65_1228-64insATATAT
ENST00000634586.1:c.1228-65_1228-64insATATAT ENSP00000489218.1:n.1228-65_1228-64insATATAT
ENST00000634840.1:c.1228-65_1228-64insATATAT ENSP00000489324.1:n.1228-65_1228-64insATATAT
NM_005188.3:c.1228-65_1228-64insATATAT , LRG_608t1:c.1228-65_1228-64insATATAT NP_005179.2:n.1228-65_1228-64insATATAT
XM_011543057.1:c.1228-65_1228-64insATATAT XP_011541359.1:n.1228-65_1228-64insATATAT
NM_005188.4:c.1228-65_1228-64insATATAT MANE Select NP_005179.2:n.1228-65_1228-64insATATAT