Canonical Allele Identifier: CA16602180
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 625257
ClinVar RCV Id: RCV000767284
dbSNP Id: rs1559429711
PCER: P-CER:CA16602180/193300
CIViC: CA16602180
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149849del , CM000665.2:g.10149849del GRCh38
NC_000003.11:g.10191533del , CM000665.1:g.10191533del GRCh37
NC_000003.10:g.10166533del NCBI36
NG_008212.3:g.13215del , LRG_322:g.13215del

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*203del ENSP00000512434.1:n.*203del
ENST00000696143.1:c.662del ENSP00000512435.1:n.662del
ENST00000696153.1:c.637del ENSP00000512444.1:p.Arg213GlyfsTer26
ENST00000256474.3:c.526del MANE Select ENSP00000256474.3:p.Arg176GlyfsTer26
ENST00000256474.2:c.526del ENSP00000256474.2:p.Arg176GlyfsTer26
ENST00000345392.2:c.403del ENSP00000344757.2:p.Arg135GlyfsTer26
ENST00000477538.1:n.662del
NM_000551.3:c.526del , LRG_322t1:c.526del NP_000542.1:p.Arg176GlyfsTer26
NM_198156.2:c.403del NP_937799.1:p.Arg135GlyfsTer26
NM_001354723.1:c.*80del NP_001341652.1:n.*80del
NM_000551.4:c.526del MANE Select NP_000542.1:p.Arg176GlyfsTer26
NM_001354723.2:c.*80del NP_001341652.1:n.*80del
NM_198156.3:c.403del NP_937799.1:p.Arg135GlyfsTer26
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