Canonical Allele Identifier: CA645369329
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 428798
ClinVar RCV Id: RCV000492390
dbSNP Id: rs1131690956
MyVariant Identifiers: chr3:g.10188215del (hg19) chr3:g.10146531del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10146531del , CM000665.2:g.10146531del GRCh38
NC_000003.11:g.10188215del , CM000665.1:g.10188215del GRCh37
NC_000003.10:g.10163215del NCBI36
NG_008212.3:g.9897del , LRG_322:g.9897del

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*35del ENSP00000512434.1:n.*35del
ENST00000696143.1:c.600-3256del ENSP00000512435.1:n.600-3256del
ENST00000696153.1:c.358del ENSP00000512444.1:p.Arg120GlufsTer?
ENST00000256474.3:c.358del MANE Select ENSP00000256474.3:p.Arg120GlufsTer?
ENST00000256474.2:c.358del ENSP00000256474.2:p.Arg120GlufsTer?
ENST00000345392.2:c.341-3256del ENSP00000344757.2:n.341-3256del
ENST00000477538.1:n.494del
NM_000551.3:c.358del , LRG_322t1:c.358del NP_000542.1:p.Arg120GlufsTer?
NM_198156.2:c.341-3256del NP_937799.1:n.341-3256del
XM_011534078.1:c.*35del XP_011532380.1:n.*35del
NM_001354723.1:c.*18-3256del NP_001341652.1:n.*18-3256del
NM_000551.4:c.358del MANE Select NP_000542.1:p.Arg120GlufsTer?
NM_001354723.2:c.*18-3256del NP_001341652.1:n.*18-3256del
NM_198156.3:c.341-3256del NP_937799.1:n.341-3256del
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