Canonical Allele Identifier: CA020360
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 195093
ClinVar RCV Id: RCV000175633 RCV000767275 RCV000796988
dbSNP Id: rs794727253
COSMIC: COSM17843
MyVariant Identifiers: chr3:g.10188306del (hg19) chr3:g.10146622del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10146622del , CM000665.2:g.10146622del GRCh38
NC_000003.11:g.10188306del , CM000665.1:g.10188306del GRCh37
NC_000003.10:g.10163306del NCBI36
NG_008212.3:g.9988del , LRG_322:g.9988del

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*126del ENSP00000512434.1:n.*126del
ENST00000696143.1:c.600-3165del ENSP00000512435.1:n.600-3165del
ENST00000696153.1:c.449del ENSP00000512444.1:p.Asn150IlefsTer19
ENST00000256474.3:c.449del MANE Select ENSP00000256474.3:p.Asn150IlefsTer9
ENST00000256474.2:c.449del ENSP00000256474.2:p.Asn150IlefsTer9
ENST00000345392.2:c.341-3165del ENSP00000344757.2:n.341-3165del
ENST00000477538.1:n.585del
NM_000551.3:c.449del , LRG_322t1:c.449del NP_000542.1:p.Asn150IlefsTer9
NM_198156.2:c.341-3165del NP_937799.1:n.341-3165del
NM_001354723.1:c.*18-3165del NP_001341652.1:n.*18-3165del
NM_000551.4:c.449del MANE Select NP_000542.1:p.Asn150IlefsTer9
NM_001354723.2:c.*18-3165del NP_001341652.1:n.*18-3165del
NM_198156.3:c.341-3165del NP_937799.1:n.341-3165del
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