Canonical Allele Identifier: CA645524936

Gene: VHL

Linked Data

• COSMIC: COSM98499

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146575dup , CM000665.2:g.10146575dup	GRCh38
NC_000003.11:g.10188259dup , CM000665.1:g.10188259dup	GRCh37
NC_000003.10:g.10163259dup	NCBI36
NG_008212.3:g.9941dup , LRG_322:g.9941dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*79dup	ENSP00000512434.1:n.*79dup
ENST00000696143.1:c.600-3212dup	ENSP00000512435.1:n.600-3212dup
ENST00000696153.1:c.402dup	ENSP00000512444.1:p.Leu135IlefsTer9
ENST00000256474.3:c.402dup MANE Select	ENSP00000256474.3:p.Leu135IlefsTer9
ENST00000256474.2:c.402dup	ENSP00000256474.2:p.Leu135IlefsTer9
ENST00000345392.2:c.341-3212dup	ENSP00000344757.2:n.341-3212dup
ENST00000477538.1:n.538dup
NM_000551.3:c.402dup , LRG_322t1:c.402dup	NP_000542.1:p.Leu135IlefsTer9
NM_198156.2:c.341-3212dup	NP_937799.1:n.341-3212dup
XM_011534078.1:c.*79dup	XP_011532380.1:n.*79dup
NM_001354723.1:c.*18-3212dup	NP_001341652.1:n.*18-3212dup
NM_000551.4:c.402dup MANE Select	NP_000542.1:p.Leu135IlefsTer9
NM_001354723.2:c.*18-3212dup	NP_001341652.1:n.*18-3212dup
NM_198156.3:c.341-3212dup	NP_937799.1:n.341-3212dup