Canonical Allele Identifier: CA020069
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 182986
ClinVar RCV Id: RCV000161096
dbSNP Id: rs730882037
COSMIC: COSM18127
CIViC: CA020069

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142027del , CM000665.2:g.10142027del GRCh38
NC_000003.11:g.10183711del , CM000665.1:g.10183711del GRCh37
NC_000003.10:g.10158711del NCBI36
NG_008212.3:g.5393del , LRG_322:g.5393del

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.180del ENSP00000512434.1:p.Val62CysfsTer5
ENST00000696143.1:c.180del ENSP00000512435.1:p.Val62CysfsTer5
ENST00000696153.1:c.180del ENSP00000512444.1:p.Val62CysfsTer5
ENST00000256474.3:c.180del MANE Select ENSP00000256474.3:p.Val62CysfsTer5
ENST00000256474.2:c.180del ENSP00000256474.2:p.Val62CysfsTer5
ENST00000345392.2:c.180del ENSP00000344757.2:p.Val62CysfsTer5
NM_000551.3:c.180del , LRG_322t1:c.180del NP_000542.1:p.Val62CysfsTer5
NM_198156.2:c.180del NP_937799.1:p.Val62CysfsTer5
XM_011534078.1:c.180del XP_011532380.1:p.Val62CysfsTer5
NM_001354723.1:c.180del NP_001341652.1:p.Val62CysfsTer5
NM_000551.4:c.180del MANE Select NP_000542.1:p.Val62CysfsTer5
NM_001354723.2:c.180del NP_001341652.1:p.Val62CysfsTer5
NM_198156.3:c.180del NP_937799.1:p.Val62CysfsTer5