Canonical Allele Identifier: CA135699

Gene: CBL

Linked Data

• ClinVar Variation Id: 45199
• ClinVar RCV Id: RCV000038349 ; RCV000405234 ; RCV001511169
• dbSNP Id: rs397517078
• ExAC: 11:119149208 C / CT
• gnomAD v2: 11-119149208-C-CT
• gnomAD v3: 11-119278498-C-CT
• gnomAD v4: 11-119278498-C-CT
• MyVariant Identifiers: chr11:g.119149210dupT (hg19) ; chr11:g.119149208_119149209insT (hg19) ; chr11:g.119278500dupT (hg38) ; chr11:g.119278498_119278499insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119278500dup , CM000673.2:g.119278500dup	GRCh38
NC_000011.9:g.119149210dup , CM000673.1:g.119149210dup	GRCh37
NC_000011.8:g.118654420dup	NCBI36
NG_016808.1:g.77221dup , LRG_608:g.77221dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000700472.1:c.*680-10dup	ENSP00000515005.1:n.*680-10dup
ENST00000264033.6:c.1228-10dup MANE Select	ENSP00000264033.3:n.1228-10dup
ENST00000637974.1:c.1222-10dup	ENSP00000490763.1:n.1222-10dup
ENST00000264033.5:c.1228-10dup	ENSP00000264033.3:n.1228-10dup
ENST00000634586.1:c.1228-10dup	ENSP00000489218.1:n.1228-10dup
ENST00000634840.1:c.1228-10dup	ENSP00000489324.1:n.1228-10dup
NM_005188.3:c.1228-10dup , LRG_608t1:c.1228-10dup	NP_005179.2:n.1228-10dup
XM_011543057.1:c.1228-10dup	XP_011541359.1:n.1228-10dup
NM_005188.4:c.1228-10dup MANE Select	NP_005179.2:n.1228-10dup