Canonical Allele Identifier: CA645525061

Gene: VHL

Linked Data

• COSMIC: COSM144719

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149806dup , CM000665.2:g.10149806dup	GRCh38
NC_000003.11:g.10191490dup , CM000665.1:g.10191490dup	GRCh37
NC_000003.10:g.10166490dup	NCBI36
NG_008212.3:g.13172dup , LRG_322:g.13172dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*160dup	ENSP00000512434.1:n.*160dup
ENST00000696143.1:c.619dup	ENSP00000512435.1:n.619dup
ENST00000696153.1:c.594dup	ENSP00000512444.1:p.Cys199MetfsTer12
ENST00000256474.3:c.483dup MANE Select	ENSP00000256474.3:p.Cys162MetfsTer12
ENST00000256474.2:c.483dup	ENSP00000256474.2:p.Cys162MetfsTer12
ENST00000345392.2:c.360dup	ENSP00000344757.2:p.Cys121MetfsTer12
ENST00000477538.1:n.619dup
NM_000551.3:c.483dup , LRG_322t1:c.483dup	NP_000542.1:p.Cys162MetfsTer12
NM_198156.2:c.360dup	NP_937799.1:p.Cys121MetfsTer12
NM_001354723.1:c.*37dup	NP_001341652.1:n.*37dup
NM_000551.4:c.483dup MANE Select	NP_000542.1:p.Cys162MetfsTer12
NM_001354723.2:c.*37dup	NP_001341652.1:n.*37dup
NM_198156.3:c.360dup	NP_937799.1:p.Cys121MetfsTer12