Canonical Allele Identifier: CA645529581

Gene: VHL

Linked Data

• COSMIC: COSM18384

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149925dup , CM000665.2:g.10149925dup	GRCh38
NC_000003.11:g.10191609dup , CM000665.1:g.10191609dup	GRCh37
NC_000003.10:g.10166609dup	NCBI36
NG_008212.3:g.13291dup , LRG_322:g.13291dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*279dup	ENSP00000512434.1:n.*279dup
ENST00000696143.1:c.738dup	ENSP00000512435.1:n.738dup
ENST00000696153.1:c.713dup	ENSP00000512444.1:p.Thr239AspfsTer?
ENST00000256474.3:c.602dup MANE Select	ENSP00000256474.3:p.Thr202AspfsTer?
ENST00000256474.2:c.602dup	ENSP00000256474.2:p.Thr202AspfsTer?
ENST00000345392.2:c.479dup	ENSP00000344757.2:p.Thr161AspfsTer?
ENST00000477538.1:n.738dup
NM_000551.3:c.602dup , LRG_322t1:c.602dup	NP_000542.1:p.Thr202AspfsTer?
NM_198156.2:c.479dup	NP_937799.1:p.Thr161AspfsTer?
NM_001354723.1:c.*156dup	NP_001341652.1:n.*156dup
NM_000551.4:c.602dup MANE Select	NP_000542.1:p.Thr202AspfsTer?
NM_001354723.2:c.*156dup	NP_001341652.1:n.*156dup
NM_198156.3:c.479dup	NP_937799.1:p.Thr161AspfsTer?