Canonical Allele Identifier: CA916832757

Gene: VHL

Linked Data

• dbSNP Id: rs1553620317

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149808dup , CM000665.2:g.10149808dup	GRCh38
NC_000003.11:g.10191492dup , CM000665.1:g.10191492dup	GRCh37
NC_000003.10:g.10166492dup	NCBI36
NG_008212.3:g.13174dup , LRG_322:g.13174dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*162dup	ENSP00000512434.1:n.*162dup
ENST00000696143.1:c.621dup	ENSP00000512435.1:n.621dup
ENST00000696153.1:c.596dup	ENSP00000512444.1:p.Cys199TrpfsTer12
ENST00000256474.3:c.485dup MANE Select	ENSP00000256474.3:p.Cys162TrpfsTer12
ENST00000256474.2:c.485dup	ENSP00000256474.2:p.Cys162TrpfsTer12
ENST00000345392.2:c.362dup	ENSP00000344757.2:p.Cys121TrpfsTer12
ENST00000477538.1:n.621dup
NM_000551.3:c.485dup , LRG_322t1:c.485dup	NP_000542.1:p.Cys162TrpfsTer12
NM_198156.2:c.362dup	NP_937799.1:p.Cys121TrpfsTer12
NM_001354723.1:c.*39dup	NP_001341652.1:n.*39dup
NM_000551.4:c.485dup MANE Select	NP_000542.1:p.Cys162TrpfsTer12
NM_001354723.2:c.*39dup	NP_001341652.1:n.*39dup
NM_198156.3:c.362dup	NP_937799.1:p.Cys121TrpfsTer12