Canonical Allele Identifier: CA2573331814

Gene: CBL

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119206557dup , CM000673.2:g.119206557dup	GRCh38
NC_000011.9:g.119077267dup , CM000673.1:g.119077267dup	GRCh37
NC_000011.8:g.118582477dup	NCBI36
NG_016808.1:g.5278dup , LRG_608:g.5278dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700472.1:c.140dup	ENSP00000515005.1:p.Pro48AlafsTer22
ENST00000264033.6:c.140dup MANE Select	ENSP00000264033.3:p.Pro48AlafsTer?
ENST00000637974.1:c.134dup	ENSP00000490763.1:p.Pro46AlafsTer?
ENST00000264033.5:c.140dup	ENSP00000264033.3:p.Pro48AlafsTer?
ENST00000634586.1:c.140dup	ENSP00000489218.1:p.Pro48AlafsTer?
ENST00000634840.1:c.140dup	ENSP00000489324.1:p.Pro48AlafsTer?
NM_005188.3:c.140dup , LRG_608t1:c.140dup	NP_005179.2:p.Pro48AlafsTer?
XM_011543057.1:c.140dup	XP_011541359.1:p.Pro48AlafsTer?
NM_005188.4:c.140dup MANE Select	NP_005179.2:p.Pro48AlafsTer?