Canonical Allele Identifier: CA432421926
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 625251
ClinVar RCV Id: RCV000767276
dbSNP Id: rs1559428267
COSMIC: COSM423202
MyVariant Identifiers: chr3:g.10188319del (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10146635del , CM000665.2:g.10146635del GRCh38
NC_000003.11:g.10188319del , CM000665.1:g.10188319del GRCh37
NC_000003.10:g.10163319del NCBI36
NG_008212.3:g.10001del , LRG_322:g.10001del

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*139del ENSP00000512434.1:n.*139del
ENST00000696143.1:c.600-3152del ENSP00000512435.1:n.600-3152del
ENST00000696153.1:c.462del ENSP00000512444.1:p.Glu155SerfsTer14
ENST00000256474.3:c.462del MANE Select ENSP00000256474.3:p.Val155CysfsTer4
ENST00000256474.2:c.462del ENSP00000256474.2:p.Val155CysfsTer4
ENST00000345392.2:c.341-3152del ENSP00000344757.2:n.341-3152del
ENST00000477538.1:n.598del
NM_000551.3:c.462del , LRG_322t1:c.462del NP_000542.1:p.Val155CysfsTer4
NM_198156.2:c.341-3152del NP_937799.1:n.341-3152del
NM_001354723.1:c.*18-3152del NP_001341652.1:n.*18-3152del
NM_000551.4:c.462del MANE Select NP_000542.1:p.Val155CysfsTer4
NM_001354723.2:c.*18-3152del NP_001341652.1:n.*18-3152del
NM_198156.3:c.341-3152del NP_937799.1:n.341-3152del