Canonical Allele Identifier: CA2580083641

Gene: CBL

Linked Data

• ClinVar Variation Id: 2023193
• ClinVar RCV Id: RCV002875789

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119206538_119206546dup , CM000673.2:g.119206538_119206546dup	GRCh38
NC_000011.9:g.119077248_119077256dup , CM000673.1:g.119077248_119077256dup	GRCh37
NC_000011.8:g.118582458_118582466dup	NCBI36
NG_016808.1:g.5259_5267dup , LRG_608:g.5259_5267dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700472.1:c.121_129dup	ENSP00000515005.1:p.Leu43_Ser44insHisHisLeu
ENST00000264033.6:c.121_129dup MANE Select	ENSP00000264033.3:p.Leu43_Ser44insHisHisLeu
ENST00000637974.1:c.115_123dup	ENSP00000490763.1:p.Leu41_Ser42insHisHisLeu
ENST00000264033.5:c.121_129dup	ENSP00000264033.3:p.Leu43_Ser44insHisHisLeu
ENST00000634586.1:c.121_129dup	ENSP00000489218.1:p.Leu43_Ser44insHisHisLeu
ENST00000634840.1:c.121_129dup	ENSP00000489324.1:p.Leu43_Ser44insHisHisLeu
NM_005188.3:c.121_129dup , LRG_608t1:c.121_129dup	NP_005179.2:p.Leu43_Ser44insHisHisLeu
XM_011543057.1:c.121_129dup	XP_011541359.1:p.Leu43_Ser44insHisHisLeu
NM_005188.4:c.121_129dup MANE Select	NP_005179.2:p.Leu43_Ser44insHisHisLeu