Canonical Allele Identifier: CA2575031951

Gene: CBL

Linked Data

• gnomAD v4: 11-119278439-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119278439G>A , CM000673.2:g.119278439G>A	GRCh38
NC_000011.9:g.119149149G>A , CM000673.1:g.119149149G>A	GRCh37
NC_000011.8:g.118654359G>A	NCBI36
NG_016808.1:g.77160G>A , LRG_608:g.77160G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000700472.1:c.*680-71G>A	ENSP00000515005.1:n.*680-71G>A
ENST00000264033.6:c.1228-71G>A MANE Select	ENSP00000264033.3:n.1228-71G>A
ENST00000637974.1:c.1222-71G>A	ENSP00000490763.1:n.1222-71G>A
ENST00000264033.5:c.1228-71G>A	ENSP00000264033.3:n.1228-71G>A
ENST00000634586.1:c.1228-71G>A	ENSP00000489218.1:n.1228-71G>A
ENST00000634840.1:c.1228-71G>A	ENSP00000489324.1:n.1228-71G>A
NM_005188.3:c.1228-71G>A , LRG_608t1:c.1228-71G>A	NP_005179.2:n.1228-71G>A
XM_011543057.1:c.1228-71G>A	XP_011541359.1:n.1228-71G>A
NM_005188.4:c.1228-71G>A MANE Select	NP_005179.2:n.1228-71G>A