Canonical Allele Identifier: CA432421924
Gene: VHL HGNC NCBI

Linked Data

COSMIC: COSM34013
MyVariant Identifiers: chr3:g.10188318del (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10146634del , CM000665.2:g.10146634del GRCh38
NC_000003.11:g.10188318del , CM000665.1:g.10188318del GRCh37
NC_000003.10:g.10163318del NCBI36
NG_008212.3:g.10000del , LRG_322:g.10000del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.*138del ENSP00000512434.1:n.*138del
ENST00000696143.1:c.600-3153del ENSP00000512435.1:n.600-3153del
ENST00000696153.1:c.461del ENSP00000512444.1:p.Pro154GlnfsTer15
ENST00000256474.3:c.461del MANE Select ENSP00000256474.3:p.Pro154GlnfsTer5
ENST00000256474.2:c.461del ENSP00000256474.2:p.Pro154GlnfsTer5
ENST00000345392.2:c.341-3153del ENSP00000344757.2:n.341-3153del
ENST00000477538.1:n.597del
NM_000551.3:c.461del , LRG_322t1:c.461del NP_000542.1:p.Pro154GlnfsTer5
NM_198156.2:c.341-3153del NP_937799.1:n.341-3153del
NM_001354723.1:c.*18-3153del NP_001341652.1:n.*18-3153del
NM_000551.4:c.461del MANE Select NP_000542.1:p.Pro154GlnfsTer5
NM_001354723.2:c.*18-3153del NP_001341652.1:n.*18-3153del
NM_198156.3:c.341-3153del NP_937799.1:n.341-3153del