Canonical Allele Identifier: CA357041
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 223210
ClinVar RCV Id: RCV000208807 RCV000706591
dbSNP Id: rs869025652
MyVariant Identifiers: chr3:g.10188292_10188293del (hg19) chr3:g.10146608_10146609del (hg38)
CIViC: CA357041
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10146608_10146609del , CM000665.2:g.10146608_10146609del GRCh38
NC_000003.11:g.10188292_10188293del , CM000665.1:g.10188292_10188293del GRCh37
NC_000003.10:g.10163292_10163293del NCBI36
NG_008212.3:g.9974_9975del , LRG_322:g.9974_9975del

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*112_*113del ENSP00000512434.1:n.*112_*113del
ENST00000696143.1:c.600-3179_600-3178del ENSP00000512435.1:n.600-3179_600-3178del
ENST00000696153.1:c.435_436del ENSP00000512444.1:p.Gln145HisfsTer?
ENST00000256474.3:c.435_436del MANE Select ENSP00000256474.3:p.Gln145HisfsTer28
ENST00000256474.2:c.435_436del ENSP00000256474.2:p.Gln145HisfsTer28
ENST00000345392.2:c.341-3179_341-3178del ENSP00000344757.2:n.341-3179_341-3178del
ENST00000477538.1:n.571_572del
NM_000551.3:c.435_436del , LRG_322t1:c.435_436del NP_000542.1:p.Gln145HisfsTer28
NM_198156.2:c.341-3179_341-3178del NP_937799.1:n.341-3179_341-3178del
NM_001354723.1:c.*18-3179_*18-3178del NP_001341652.1:n.*18-3179_*18-3178del
NM_000551.4:c.435_436del MANE Select NP_000542.1:p.Gln145HisfsTer28
NM_001354723.2:c.*18-3179_*18-3178del NP_001341652.1:n.*18-3179_*18-3178del
NM_198156.3:c.341-3179_341-3178del NP_937799.1:n.341-3179_341-3178del
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