Canonical Allele Identifier: CA645524875

Gene: VHL

Linked Data

• COSMIC: COSM1684705

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146513_10146530dup , CM000665.2:g.10146513_10146530dup	GRCh38
NC_000003.11:g.10188197_10188214dup , CM000665.1:g.10188197_10188214dup	GRCh37
NC_000003.10:g.10163197_10163214dup	NCBI36
NG_008212.3:g.9879_9896dup , LRG_322:g.9879_9896dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*18-1_*34dup
ENST00000696143.1:c.600-3274_600-3257dup	ENSP00000512435.1:n.600-3274_600-3257dup
ENST00000696153.1:c.341-1_357dup
ENST00000256474.3:c.341-1_357dup
ENST00000256474.2:c.341-1_357dup
ENST00000345392.2:c.341-3274_341-3257dup	ENSP00000344757.2:n.341-3274_341-3257dup
ENST00000477538.1:n.477-1_493dup
NM_000551.3:c.341-1_357dup , LRG_322t1:c.341-1_357dup
NM_198156.2:c.341-3274_341-3257dup	NP_937799.1:n.341-3274_341-3257dup
XM_011534078.1:c.*18-1_*34dup
NM_001354723.1:c.*18-3274_*18-3257dup	NP_001341652.1:n.*18-3274_*18-3257dup
NM_000551.4:c.341-1_357dup
NM_001354723.2:c.*18-3274_*18-3257dup	NP_001341652.1:n.*18-3274_*18-3257dup
NM_198156.3:c.341-3274_341-3257dup	NP_937799.1:n.341-3274_341-3257dup