Canonical Allele Identifier: CA645525054

Gene: VHL

Linked Data

• COSMIC: COSM30250 ; COSM253381

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149803_10149806del , CM000665.2:g.10149803_10149806del	GRCh38
NC_000003.11:g.10191487_10191490del , CM000665.1:g.10191487_10191490del	GRCh37
NC_000003.10:g.10166487_10166490del	NCBI36
NG_008212.3:g.13169_13172del , LRG_322:g.13169_13172del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*157_*160del	ENSP00000512434.1:n.*157_*160del
ENST00000696143.1:c.616_619del	ENSP00000512435.1:n.616_619del
ENST00000696153.1:c.591_594del	ENSP00000512444.1:p.Glu197AspfsTer9
ENST00000256474.3:c.480_483del MANE Select	ENSP00000256474.3:p.Glu160AspfsTer9
ENST00000256474.2:c.480_483del	ENSP00000256474.2:p.Glu160AspfsTer9
ENST00000345392.2:c.357_360del	ENSP00000344757.2:p.Glu119AspfsTer9
ENST00000477538.1:n.616_619del
NM_000551.3:c.480_483del , LRG_322t1:c.480_483del	NP_000542.1:p.Glu160AspfsTer9
NM_198156.2:c.357_360del	NP_937799.1:p.Glu119AspfsTer9
NM_001354723.1:c.*34_*37del	NP_001341652.1:n.*34_*37del
NM_000551.4:c.480_483del MANE Select	NP_000542.1:p.Glu160AspfsTer9
NM_001354723.2:c.*34_*37del	NP_001341652.1:n.*34_*37del
NM_198156.3:c.357_360del	NP_937799.1:p.Glu119AspfsTer9