Canonical Allele Identifier: CA658795183
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 928822
ClinVar RCV Id: RCV002339489
dbSNP Id: rs1696355438
CIViC: CA658795183
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149806del , CM000665.2:g.10149806del GRCh38
NC_000003.11:g.10191490del , CM000665.1:g.10191490del GRCh37
NC_000003.10:g.10166490del NCBI36
NG_008212.3:g.13172del , LRG_322:g.13172del

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*160del ENSP00000512434.1:n.*160del
ENST00000696143.1:c.619del ENSP00000512435.1:n.619del
ENST00000696153.1:c.594del ENSP00000512444.1:p.Cys199AlafsTer8
ENST00000256474.3:c.483del MANE Select ENSP00000256474.3:p.Cys162AlafsTer8
ENST00000256474.2:c.483del ENSP00000256474.2:p.Cys162AlafsTer8
ENST00000345392.2:c.360del ENSP00000344757.2:p.Cys121AlafsTer8
ENST00000477538.1:n.619del
NM_000551.3:c.483del , LRG_322t1:c.483del NP_000542.1:p.Cys162AlafsTer8
NM_198156.2:c.360del NP_937799.1:p.Cys121AlafsTer8
NM_001354723.1:c.*37del NP_001341652.1:n.*37del
NM_000551.4:c.483del MANE Select NP_000542.1:p.Cys162AlafsTer8
NM_001354723.2:c.*37del NP_001341652.1:n.*37del
NM_198156.3:c.360del NP_937799.1:p.Cys121AlafsTer8
Search 100 bp 5'
Search 100 bp 3'