Canonical Allele Identifier: CA2793839087

Gene: CBL

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119278420T>A , CM000673.2:g.119278420T>A	GRCh38
NC_000011.9:g.119149130T>A , CM000673.1:g.119149130T>A	GRCh37
NC_000011.8:g.118654340T>A	NCBI36
NG_016808.1:g.77141T>A , LRG_608:g.77141T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700472.1:c.*680-90T>A	ENSP00000515005.1:n.*680-90T>A
ENST00000264033.6:c.1228-90T>A MANE Select	ENSP00000264033.3:n.1228-90T>A
ENST00000637974.1:c.1222-90T>A	ENSP00000490763.1:n.1222-90T>A
ENST00000264033.5:c.1228-90T>A	ENSP00000264033.3:n.1228-90T>A
ENST00000634586.1:c.1228-90T>A	ENSP00000489218.1:n.1228-90T>A
ENST00000634840.1:c.1228-90T>A	ENSP00000489324.1:n.1228-90T>A
NM_005188.3:c.1228-90T>A , LRG_608t1:c.1228-90T>A	NP_005179.2:n.1228-90T>A
XM_011543057.1:c.1228-90T>A	XP_011541359.1:n.1228-90T>A
NM_005188.4:c.1228-90T>A MANE Select	NP_005179.2:n.1228-90T>A