Canonical Allele Identifier: CA2573146903

Gene: CBL

Linked Data

• ClinVar Variation Id: 1427090
• ClinVar RCV Id: RCV001933542
• dbSNP Id: rs2135303545

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119278182_119278184del , CM000673.2:g.119278182_119278184del	GRCh38
NC_000011.9:g.119148892_119148894del , CM000673.1:g.119148892_119148894del	GRCh37
NC_000011.8:g.118654102_118654104del	NCBI36
NG_016808.1:g.76903_76905del , LRG_608:g.76903_76905del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700472.1:c.*564_*566del	ENSP00000515005.1:n.*564_*566del
ENST00000264033.6:c.1112_1114del MANE Select	ENSP00000264033.3:p.Tyr371del
ENST00000637974.1:c.1106_1108del	ENSP00000490763.1:p.Tyr369del
ENST00000264033.5:c.1112_1114del	ENSP00000264033.3:p.Tyr371del
ENST00000634586.1:c.1112_1114del	ENSP00000489218.1:p.Tyr371del
ENST00000634840.1:c.1112_1114del	ENSP00000489324.1:p.Tyr371del
NM_005188.3:c.1112_1114del , LRG_608t1:c.1112_1114del	NP_005179.2:p.Tyr371del
XM_011543057.1:c.1112_1114del	XP_011541359.1:p.Tyr371del
NM_005188.4:c.1112_1114del MANE Select	NP_005179.2:p.Tyr371del