Canonical Allele Identifier: CA2616383929

Gene: CBL

Linked Data

• gnomAD v4: 11-119206449-C-CCGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119206453_119206458dup , CM000673.2:g.119206453_119206458dup	GRCh38
NC_000011.9:g.119077163_119077168dup , CM000673.1:g.119077163_119077168dup	GRCh37
NC_000011.8:g.118582373_118582378dup	NCBI36
NG_016808.1:g.5174_5179dup , LRG_608:g.5174_5179dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700472.1:c.36_41dup	ENSP00000515005.1:p.Gly14_Ser15insGlyGly
ENST00000264033.6:c.36_41dup MANE Select	ENSP00000264033.3:p.Gly14_Ser15insGlyGly
ENST00000637974.1:c.30_35dup	ENSP00000490763.1:p.Gly12_Ser13insGlyGly
ENST00000264033.5:c.36_41dup	ENSP00000264033.3:p.Gly14_Ser15insGlyGly
ENST00000634586.1:c.36_41dup	ENSP00000489218.1:p.Gly14_Ser15insGlyGly
ENST00000634840.1:c.36_41dup	ENSP00000489324.1:p.Gly14_Ser15insGlyGly
NM_005188.3:c.36_41dup , LRG_608t1:c.36_41dup	NP_005179.2:p.Gly14_Ser15insGlyGly
XM_011543057.1:c.36_41dup	XP_011541359.1:p.Gly14_Ser15insGlyGly
NM_005188.4:c.36_41dup MANE Select	NP_005179.2:p.Gly14_Ser15insGlyGly