Canonical Allele Identifier: CA2740090906

Gene: VHL

Linked Data

• ClinVar Variation Id: 2921908
• ClinVar RCV Id: RCV003782930

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149930_10149946del , CM000665.2:g.10149930_10149946del	GRCh38
NC_000003.11:g.10191614_10191630del , CM000665.1:g.10191614_10191630del	GRCh37
NC_000003.10:g.10166614_10166630del	NCBI36
NG_008212.3:g.13296_13312del , LRG_322:g.13296_13312del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*284_*300del	ENSP00000512434.1:n.*284_*300del
ENST00000696143.1:c.743_759del	ENSP00000512435.1:n.743_759del
ENST00000696153.1:c.718_734del	ENSP00000512444.1:p.Gln240SerfsTer?
ENST00000256474.3:c.607_623del MANE Select	ENSP00000256474.3:p.Gln203SerfsTer?
ENST00000256474.2:c.607_623del	ENSP00000256474.2:p.Gln203SerfsTer?
ENST00000345392.2:c.484_500del	ENSP00000344757.2:p.Gln162SerfsTer?
ENST00000477538.1:n.743_759del
NM_000551.3:c.607_623del , LRG_322t1:c.607_623del	NP_000542.1:p.Gln203SerfsTer?
NM_198156.2:c.484_500del	NP_937799.1:p.Gln162SerfsTer?
NM_001354723.1:c.*161_*177del	NP_001341652.1:n.*161_*177del
NM_000551.4:c.607_623del MANE Select	NP_000542.1:p.Gln203SerfsTer?
NM_001354723.2:c.*161_*177del	NP_001341652.1:n.*161_*177del
NM_198156.3:c.484_500del	NP_937799.1:p.Gln162SerfsTer?