Canonical Allele Identifier: CA2580614139

Gene: VHL

Linked Data

• ClinVar Variation Id: 2504636
• ClinVar RCV Id: RCV003233054

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149920del , CM000665.2:g.10149920del	GRCh38
NC_000003.11:g.10191604del , CM000665.1:g.10191604del	GRCh37
NC_000003.10:g.10166604del	NCBI36
NG_008212.3:g.13286del , LRG_322:g.13286del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*274del	ENSP00000512434.1:n.*274del
ENST00000696143.1:c.733del	ENSP00000512435.1:n.733del
ENST00000696153.1:c.708del	ENSP00000512444.1:p.Glu236AspfsTer3
ENST00000256474.3:c.597del MANE Select	ENSP00000256474.3:p.Glu199AspfsTer3
ENST00000256474.2:c.597del	ENSP00000256474.2:p.Glu199AspfsTer3
ENST00000345392.2:c.474del	ENSP00000344757.2:p.Glu158AspfsTer3
ENST00000477538.1:n.733del
NM_000551.3:c.597del , LRG_322t1:c.597del	NP_000542.1:p.Glu199AspfsTer3
NM_198156.2:c.474del	NP_937799.1:p.Glu158AspfsTer3
NM_001354723.1:c.*151del	NP_001341652.1:n.*151del
NM_000551.4:c.597del MANE Select	NP_000542.1:p.Glu199AspfsTer3
NM_001354723.2:c.*151del	NP_001341652.1:n.*151del
NM_198156.3:c.474del	NP_937799.1:p.Glu158AspfsTer3