Canonical Allele Identifier: CA913190159

Gene: VHL

Linked Data

• ClinVar Variation Id: 625250
• ClinVar RCV Id: RCV000767274
• dbSNP Id: rs1559428232

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146618dup , CM000665.2:g.10146618dup	GRCh38
NC_000003.11:g.10188302dup , CM000665.1:g.10188302dup	GRCh37
NC_000003.10:g.10163302dup	NCBI36
NG_008212.3:g.9984dup , LRG_322:g.9984dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*122dup	ENSP00000512434.1:n.*122dup
ENST00000696143.1:c.600-3169dup	ENSP00000512435.1:n.600-3169dup
ENST00000696153.1:c.445dup	ENSP00000512444.1:p.Ala149GlyfsTer?
ENST00000256474.3:c.445dup MANE Select	ENSP00000256474.3:p.Ala149GlyfsTer25
ENST00000256474.2:c.445dup	ENSP00000256474.2:p.Ala149GlyfsTer25
ENST00000345392.2:c.341-3169dup	ENSP00000344757.2:n.341-3169dup
ENST00000477538.1:n.581dup
NM_000551.3:c.445dup , LRG_322t1:c.445dup	NP_000542.1:p.Ala149GlyfsTer25
NM_198156.2:c.341-3169dup	NP_937799.1:n.341-3169dup
NM_001354723.1:c.*18-3169dup	NP_001341652.1:n.*18-3169dup
NM_000551.4:c.445dup MANE Select	NP_000542.1:p.Ala149GlyfsTer25
NM_001354723.2:c.*18-3169dup	NP_001341652.1:n.*18-3169dup
NM_198156.3:c.341-3169dup	NP_937799.1:n.341-3169dup