Canonical Allele Identifier: CA2695215605

Gene: CBL

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119278180_119278182del , CM000673.2:g.119278180_119278182del	GRCh38
NC_000011.9:g.119148890_119148892del , CM000673.1:g.119148890_119148892del	GRCh37
NC_000011.8:g.118654100_118654102del	NCBI36
NG_016808.1:g.76901_76903del , LRG_608:g.76901_76903del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700472.1:c.*562_*564del	ENSP00000515005.1:n.*562_*564del
ENST00000264033.6:c.1110_1112del MANE Select	ENSP00000264033.3:p.Leu370_Tyr371delinsPhe
ENST00000637974.1:c.1104_1106del	ENSP00000490763.1:p.Leu368_Tyr369delinsPhe
ENST00000264033.5:c.1110_1112del	ENSP00000264033.3:p.Leu370_Tyr371delinsPhe
ENST00000634586.1:c.1110_1112del	ENSP00000489218.1:p.Leu370_Tyr371delinsPhe
ENST00000634840.1:c.1110_1112del	ENSP00000489324.1:p.Leu370_Tyr371delinsPhe
NM_005188.3:c.1110_1112del , LRG_608t1:c.1110_1112del	NP_005179.2:p.Leu370_Tyr371delinsPhe
XM_011543057.1:c.1110_1112del	XP_011541359.1:p.Leu370_Tyr371delinsPhe
NM_005188.4:c.1110_1112del MANE Select	NP_005179.2:p.Leu370_Tyr371delinsPhe