Canonical Allele Identifier: CA645576438

Gene: CBL

Linked Data

• ClinVar Variation Id: 1794421
• ClinVar RCV Id: RCV002453119
• COSMIC: COSM133824

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119278179_119278181dup , CM000673.2:g.119278179_119278181dup	GRCh38
NC_000011.9:g.119148889_119148891dup , CM000673.1:g.119148889_119148891dup	GRCh37
NC_000011.8:g.118654099_118654101dup	NCBI36
NG_016808.1:g.76900_76902dup , LRG_608:g.76900_76902dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700472.1:c.*561_*563dup	ENSP00000515005.1:n.*561_*563dup
ENST00000264033.6:c.1109_1111dup MANE Select	ENSP00000264033.3:p.Leu370_Tyr371insLeu
ENST00000637974.1:c.1103_1105dup	ENSP00000490763.1:p.Leu368_Tyr369insLeu
ENST00000264033.5:c.1109_1111dup	ENSP00000264033.3:p.Leu370_Tyr371insLeu
ENST00000634586.1:c.1109_1111dup	ENSP00000489218.1:p.Leu370_Tyr371insLeu
ENST00000634840.1:c.1109_1111dup	ENSP00000489324.1:p.Leu370_Tyr371insLeu
NM_005188.3:c.1109_1111dup , LRG_608t1:c.1109_1111dup	NP_005179.2:p.Leu370_Tyr371insLeu
XM_011543057.1:c.1109_1111dup	XP_011541359.1:p.Leu370_Tyr371insLeu
NM_005188.4:c.1109_1111dup MANE Select	NP_005179.2:p.Leu370_Tyr371insLeu