Canonical Allele Identifier: CA645524988

Gene: VHL

Linked Data

• COSMIC: COSM18256

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146612dup , CM000665.2:g.10146612dup	GRCh38
NC_000003.11:g.10188296dup , CM000665.1:g.10188296dup	GRCh37
NC_000003.10:g.10163296dup	NCBI36
NG_008212.3:g.9978dup , LRG_322:g.9978dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*116dup	ENSP00000512434.1:n.*116dup
ENST00000696143.1:c.600-3175dup	ENSP00000512435.1:n.600-3175dup
ENST00000696153.1:c.439dup	ENSP00000512444.1:p.Ile147AsnfsTer?
ENST00000256474.3:c.439dup MANE Select	ENSP00000256474.3:p.Ile147AsnfsTer27
ENST00000256474.2:c.439dup	ENSP00000256474.2:p.Ile147AsnfsTer27
ENST00000345392.2:c.341-3175dup	ENSP00000344757.2:n.341-3175dup
ENST00000477538.1:n.575dup
NM_000551.3:c.439dup , LRG_322t1:c.439dup	NP_000542.1:p.Ile147AsnfsTer27
NM_198156.2:c.341-3175dup	NP_937799.1:n.341-3175dup
NM_001354723.1:c.*18-3175dup	NP_001341652.1:n.*18-3175dup
NM_000551.4:c.439dup MANE Select	NP_000542.1:p.Ile147AsnfsTer27
NM_001354723.2:c.*18-3175dup	NP_001341652.1:n.*18-3175dup
NM_198156.3:c.341-3175dup	NP_937799.1:n.341-3175dup