Canonical Allele Identifier: CA645529525

Gene: VHL

Linked Data

• COSMIC: COSM53188

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149856_10149867del , CM000665.2:g.10149856_10149867del	GRCh38
NC_000003.11:g.10191540_10191551del , CM000665.1:g.10191540_10191551del	GRCh37
NC_000003.10:g.10166540_10166551del	NCBI36
NG_008212.3:g.13222_13233del , LRG_322:g.13222_13233del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*210_*221del	ENSP00000512434.1:n.*210_*221del
ENST00000696143.1:c.669_680del	ENSP00000512435.1:n.669_680del
ENST00000696153.1:c.644_655del	ENSP00000512444.1:p.Leu215_Val218del
ENST00000256474.3:c.533_544del MANE Select	ENSP00000256474.3:p.Leu178_Val181del
ENST00000256474.2:c.533_544del	ENSP00000256474.2:p.Leu178_Val181del
ENST00000345392.2:c.410_421del	ENSP00000344757.2:p.Leu137_Val140del
ENST00000477538.1:n.669_680del
NM_000551.3:c.533_544del , LRG_322t1:c.533_544del	NP_000542.1:p.Leu178_Val181del
NM_198156.2:c.410_421del	NP_937799.1:p.Leu137_Val140del
NM_001354723.1:c.*87_*98del	NP_001341652.1:n.*87_*98del
NM_000551.4:c.533_544del MANE Select	NP_000542.1:p.Leu178_Val181del
NM_001354723.2:c.*87_*98del	NP_001341652.1:n.*87_*98del
NM_198156.3:c.410_421del	NP_937799.1:p.Leu137_Val140del