Canonical Allele Identifier: CA1139625450

Gene: CBL

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119206553dup , CM000673.2:g.119206553dup	GRCh38
NC_000011.9:g.119077263dup , CM000673.1:g.119077263dup	GRCh37
NC_000011.8:g.118582473dup	NCBI36
NG_016808.1:g.5274dup , LRG_608:g.5274dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700472.1:c.136dup	ENSP00000515005.1:p.His46ProfsTer24
ENST00000264033.6:c.136dup MANE Select	ENSP00000264033.3:p.His46ProfsTer?
ENST00000637974.1:c.130dup	ENSP00000490763.1:p.His44ProfsTer?
ENST00000264033.5:c.136dup	ENSP00000264033.3:p.His46ProfsTer?
ENST00000634586.1:c.136dup	ENSP00000489218.1:p.His46ProfsTer?
ENST00000634840.1:c.136dup	ENSP00000489324.1:p.His46ProfsTer?
NM_005188.3:c.136dup , LRG_608t1:c.136dup	NP_005179.2:p.His46ProfsTer?
XM_011543057.1:c.136dup	XP_011541359.1:p.His46ProfsTer?
NM_005188.4:c.136dup MANE Select	NP_005179.2:p.His46ProfsTer?