Canonical Allele Identifier: CA2616387430

Gene: CBL

Linked Data

• gnomAD v4: 11-119278084-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119278084A>C , CM000673.2:g.119278084A>C	GRCh38
NC_000011.9:g.119148794A>C , CM000673.1:g.119148794A>C	GRCh37
NC_000011.8:g.118654004A>C	NCBI36
NG_016808.1:g.76805A>C , LRG_608:g.76805A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700472.1:c.*548-82A>C	ENSP00000515005.1:n.*548-82A>C
ENST00000264033.6:c.1096-82A>C MANE Select	ENSP00000264033.3:n.1096-82A>C
ENST00000637974.1:c.1090-82A>C	ENSP00000490763.1:n.1090-82A>C
ENST00000264033.5:c.1096-82A>C	ENSP00000264033.3:n.1096-82A>C
ENST00000634586.1:c.1096-82A>C	ENSP00000489218.1:n.1096-82A>C
ENST00000634840.1:c.1096-82A>C	ENSP00000489324.1:n.1096-82A>C
NM_005188.3:c.1096-82A>C , LRG_608t1:c.1096-82A>C	NP_005179.2:n.1096-82A>C
XM_011543057.1:c.1096-82A>C	XP_011541359.1:n.1096-82A>C
NM_005188.4:c.1096-82A>C MANE Select	NP_005179.2:n.1096-82A>C