Canonical Allele Identifier: CA020404
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 182959
dbSNP Id: rs730882020
COSMIC: COSM34030
CIViC: CA020404

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149800del , CM000665.2:g.10149800del GRCh38
NC_000003.11:g.10191484del , CM000665.1:g.10191484del GRCh37
NC_000003.10:g.10166484del NCBI36
NG_008212.3:g.13166del , LRG_322:g.13166del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.*154del ENSP00000512434.1:n.*154del
ENST00000696143.1:c.613del ENSP00000512435.1:n.613del
ENST00000696153.1:c.588del ENSP00000512444.1:p.Glu197SerfsTer10
ENST00000256474.3:c.477del MANE Select ENSP00000256474.3:p.Glu160SerfsTer10
ENST00000256474.2:c.477del ENSP00000256474.2:p.Glu160SerfsTer10
ENST00000345392.2:c.354del ENSP00000344757.2:p.Glu119SerfsTer10
ENST00000477538.1:n.613del
NM_000551.3:c.477del , LRG_322t1:c.477del NP_000542.1:p.Glu160SerfsTer10
NM_198156.2:c.354del NP_937799.1:p.Glu119SerfsTer10
NM_001354723.1:c.*31del NP_001341652.1:n.*31del
NM_000551.4:c.477del MANE Select NP_000542.1:p.Glu160SerfsTer10
NM_001354723.2:c.*31del NP_001341652.1:n.*31del
NM_198156.3:c.354del NP_937799.1:p.Glu119SerfsTer10