Canonical Allele Identifier: CA1139655762

Gene: VHL

Linked Data

• ClinVar Variation Id: 952355
• ClinVar RCV Id: RCV001224455
• dbSNP Id: rs1696357569

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149828dup , CM000665.2:g.10149828dup	GRCh38
NC_000003.11:g.10191512dup , CM000665.1:g.10191512dup	GRCh37
NC_000003.10:g.10166512dup	NCBI36
NG_008212.3:g.13194dup , LRG_322:g.13194dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*182dup	ENSP00000512434.1:n.*182dup
ENST00000696143.1:c.641dup	ENSP00000512435.1:n.641dup
ENST00000696153.1:c.616dup	ENSP00000512444.1:p.Leu206ProfsTer5
ENST00000256474.3:c.505dup MANE Select	ENSP00000256474.3:p.Leu169ProfsTer5
ENST00000256474.2:c.505dup	ENSP00000256474.2:p.Leu169ProfsTer5
ENST00000345392.2:c.382dup	ENSP00000344757.2:p.Leu128ProfsTer5
ENST00000477538.1:n.641dup
NM_000551.3:c.505dup , LRG_322t1:c.505dup	NP_000542.1:p.Leu169ProfsTer5
NM_198156.2:c.382dup	NP_937799.1:p.Leu128ProfsTer5
NM_001354723.1:c.*59dup	NP_001341652.1:n.*59dup
NM_000551.4:c.505dup MANE Select	NP_000542.1:p.Leu169ProfsTer5
NM_001354723.2:c.*59dup	NP_001341652.1:n.*59dup
NM_198156.3:c.382dup	NP_937799.1:p.Leu128ProfsTer5