Canonical Allele Identifier: CA645525065

Gene: VHL

Linked Data

• COSMIC: COSM25689

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149813dup , CM000665.2:g.10149813dup	GRCh38
NC_000003.11:g.10191497dup , CM000665.1:g.10191497dup	GRCh37
NC_000003.10:g.10166497dup	NCBI36
NG_008212.3:g.13179dup , LRG_322:g.13179dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*167dup	ENSP00000512434.1:n.*167dup
ENST00000696143.1:c.626dup	ENSP00000512435.1:n.626dup
ENST00000696153.1:c.601dup	ENSP00000512444.1:p.Gln201ProfsTer10
ENST00000256474.3:c.490dup MANE Select	ENSP00000256474.3:p.Gln164ProfsTer10
ENST00000256474.2:c.490dup	ENSP00000256474.2:p.Gln164ProfsTer10
ENST00000345392.2:c.367dup	ENSP00000344757.2:p.Gln123ProfsTer10
ENST00000477538.1:n.626dup
NM_000551.3:c.490dup , LRG_322t1:c.490dup	NP_000542.1:p.Gln164ProfsTer10
NM_198156.2:c.367dup	NP_937799.1:p.Gln123ProfsTer10
NM_001354723.1:c.*44dup	NP_001341652.1:n.*44dup
NM_000551.4:c.490dup MANE Select	NP_000542.1:p.Gln164ProfsTer10
NM_001354723.2:c.*44dup	NP_001341652.1:n.*44dup
NM_198156.3:c.367dup	NP_937799.1:p.Gln123ProfsTer10