Canonical Allele Identifier: CA2573146915

Gene: CBL

Linked Data

• ClinVar Variation Id: 1349984
• ClinVar RCV Id: RCV002039415
• dbSNP Id: rs2135304373

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119278513_119278518del , CM000673.2:g.119278513_119278518del	GRCh38
NC_000011.9:g.119149223_119149228del , CM000673.1:g.119149223_119149228del	GRCh37
NC_000011.8:g.118654433_118654438del	NCBI36
NG_016808.1:g.77234_77239del , LRG_608:g.77234_77239del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700472.1:c.*683_*688del	ENSP00000515005.1:n.*683_*688del
ENST00000264033.6:c.1231_1236del MANE Select	ENSP00000264033.3:p.Ser411_Glu412del
ENST00000637974.1:c.1225_1230del	ENSP00000490763.1:p.Ser409_Glu410del
ENST00000264033.5:c.1231_1236del	ENSP00000264033.3:p.Ser411_Glu412del
ENST00000634586.1:c.1231_1236del	ENSP00000489218.1:p.Ser411_Glu412del
ENST00000634840.1:c.1231_1236del	ENSP00000489324.1:p.Ser411_Glu412del
NM_005188.3:c.1231_1236del , LRG_608t1:c.1231_1236del	NP_005179.2:p.Ser411_Glu412del
XM_011543057.1:c.1231_1236del	XP_011541359.1:p.Ser411_Glu412del
NM_005188.4:c.1231_1236del MANE Select	NP_005179.2:p.Ser411_Glu412del