Canonical Allele Identifier: CA2003905855
Gene: CBL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119278182_119278183delinsAC , CM000673.2:g.119278182_119278183delinsAC GRCh38
NC_000011.9:g.119148892_119148893delinsAC , CM000673.1:g.119148892_119148893delinsAC GRCh37
NC_000011.8:g.118654102_118654103delinsAC NCBI36
NG_016808.1:g.76903_76904delinsAC , LRG_608:g.76903_76904delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000700472.1:c.*564_*565delinsAC ENSP00000515005.1:n.*564_*565delinsAC
ENST00000264033.6:c.1112_1113delinsAC MANE Select ENSP00000264033.3:p.Tyr371=
ENST00000637974.1:c.1106_1107delinsAC ENSP00000490763.1:p.Tyr369=
ENST00000264033.5:c.1112_1113delinsAC ENSP00000264033.3:p.Tyr371=
ENST00000634586.1:c.1112_1113delinsAC ENSP00000489218.1:p.Tyr371=
ENST00000634840.1:c.1112_1113delinsAC ENSP00000489324.1:p.Tyr371=
NM_005188.3:c.1112_1113delinsAC , LRG_608t1:c.1112_1113delinsAC NP_005179.2:p.Tyr371=
XM_011543057.1:c.1112_1113delinsAC XP_011541359.1:p.Tyr371=
NM_005188.4:c.1112_1113delinsAC MANE Select NP_005179.2:p.Tyr371=