Canonical Allele Identifier: CA2616383970

Gene: CBL

Linked Data

• gnomAD v4: 11-119206450-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119206455dup , CM000673.2:g.119206455dup	GRCh38
NC_000011.9:g.119077165dup , CM000673.1:g.119077165dup	GRCh37
NC_000011.8:g.118582375dup	NCBI36
NG_016808.1:g.5176dup , LRG_608:g.5176dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700472.1:c.38dup	ENSP00000515005.1:p.Gly14ArgfsTer?
ENST00000264033.6:c.38dup MANE Select	ENSP00000264033.3:p.Gly14ArgfsTer?
ENST00000637974.1:c.32dup	ENSP00000490763.1:p.Gly12ArgfsTer?
ENST00000264033.5:c.38dup	ENSP00000264033.3:p.Gly14ArgfsTer?
ENST00000634586.1:c.38dup	ENSP00000489218.1:p.Gly14ArgfsTer?
ENST00000634840.1:c.38dup	ENSP00000489324.1:p.Gly14ArgfsTer?
NM_005188.3:c.38dup , LRG_608t1:c.38dup	NP_005179.2:p.Gly14ArgfsTer?
XM_011543057.1:c.38dup	XP_011541359.1:p.Gly14ArgfsTer?
NM_005188.4:c.38dup MANE Select	NP_005179.2:p.Gly14ArgfsTer?