Canonical Allele Identifier: CA2697559051

Gene: CBL

Linked Data

• ClinVar Variation Id: 2703612
• ClinVar RCV Id: RCV003539576

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119278177_119278188del , CM000673.2:g.119278177_119278188del	GRCh38
NC_000011.9:g.119148887_119148898del , CM000673.1:g.119148887_119148898del	GRCh37
NC_000011.8:g.118654097_118654108del	NCBI36
NG_016808.1:g.76898_76909del , LRG_608:g.76898_76909del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700472.1:c.*559_*570del	ENSP00000515005.1:n.*559_*570del
ENST00000264033.6:c.1107_1118del MANE Select	ENSP00000264033.3:p.Leu370_Glu373del
ENST00000637974.1:c.1101_1112del	ENSP00000490763.1:p.Leu368_Glu371del
ENST00000264033.5:c.1107_1118del	ENSP00000264033.3:p.Leu370_Glu373del
ENST00000634586.1:c.1107_1118del	ENSP00000489218.1:p.Leu370_Glu373del
ENST00000634840.1:c.1107_1118del	ENSP00000489324.1:p.Leu370_Glu373del
NM_005188.3:c.1107_1118del , LRG_608t1:c.1107_1118del	NP_005179.2:p.Leu370_Glu373del
XM_011543057.1:c.1107_1118del	XP_011541359.1:p.Leu370_Glu373del
NM_005188.4:c.1107_1118del MANE Select	NP_005179.2:p.Leu370_Glu373del