Canonical Allele Identifier: CA6318475

Gene: CBL

Linked Data

• ClinVar Variation Id: 992214
• ClinVar RCV Id: RCV001280584 ; RCV002069493
• dbSNP Id: rs370327162
• ExAC: 11:119149197 ACTAT / A
• gnomAD v2: 11-119149197-ACTAT-A
• gnomAD v3: 11-119278487-ACTAT-A
• gnomAD v4: 11-119278487-ACTAT-A
• MyVariant Identifiers: chr11:g.119149198_119149201del (hg19) ; chr11:g.119278489_119278492del (hg38) ; chr11:g.119278488_119278491del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119278490_119278493del , CM000673.2:g.119278490_119278493del	GRCh38
NC_000011.9:g.119149200_119149203del , CM000673.1:g.119149200_119149203del	GRCh37
NC_000011.8:g.118654410_118654413del	NCBI36
NG_016808.1:g.77211_77214del , LRG_608:g.77211_77214del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700472.1:c.*680-20_*680-17del	ENSP00000515005.1:n.*680-20_*680-17del
ENST00000264033.6:c.1228-20_1228-17del MANE Select	ENSP00000264033.3:n.1228-20_1228-17del
ENST00000637974.1:c.1222-20_1222-17del	ENSP00000490763.1:n.1222-20_1222-17del
ENST00000264033.5:c.1228-20_1228-17del	ENSP00000264033.3:n.1228-20_1228-17del
ENST00000634586.1:c.1228-20_1228-17del	ENSP00000489218.1:n.1228-20_1228-17del
ENST00000634840.1:c.1228-20_1228-17del	ENSP00000489324.1:n.1228-20_1228-17del
NM_005188.3:c.1228-20_1228-17del , LRG_608t1:c.1228-20_1228-17del	NP_005179.2:n.1228-20_1228-17del
XM_011543057.1:c.1228-20_1228-17del	XP_011541359.1:n.1228-20_1228-17del
NM_005188.4:c.1228-20_1228-17del MANE Select	NP_005179.2:n.1228-20_1228-17del