Canonical Allele Identifier: CA432421821
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 625241
ClinVar RCV Id: RCV000767263
dbSNP Id: rs1559428107
COSMIC: COSM14415 COSM253365
MyVariant Identifiers: chr3:g.10188238del (hg19) chr3:g.10188236del (hg19)
CIViC: CA432421821
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10146554del , CM000665.2:g.10146554del GRCh38
NC_000003.11:g.10188238del , CM000665.1:g.10188238del GRCh37
NC_000003.10:g.10163238del NCBI36
NG_008212.3:g.9920del , LRG_322:g.9920del

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*58del ENSP00000512434.1:n.*58del
ENST00000696143.1:c.600-3233del ENSP00000512435.1:n.600-3233del
ENST00000696153.1:c.381del ENSP00000512444.1:p.Leu128PhefsTer?
ENST00000256474.3:c.381del MANE Select ENSP00000256474.3:p.Leu128PhefsTer?
ENST00000256474.2:c.381del ENSP00000256474.2:p.Leu128PhefsTer?
ENST00000345392.2:c.341-3233del ENSP00000344757.2:n.341-3233del
ENST00000477538.1:n.517del
NM_000551.3:c.381del , LRG_322t1:c.381del NP_000542.1:p.Leu128PhefsTer?
NM_198156.2:c.341-3233del NP_937799.1:n.341-3233del
XM_011534078.1:c.*58del XP_011532380.1:n.*58del
NM_001354723.1:c.*18-3233del NP_001341652.1:n.*18-3233del
NM_000551.4:c.381del MANE Select NP_000542.1:p.Leu128PhefsTer?
NM_001354723.2:c.*18-3233del NP_001341652.1:n.*18-3233del
NM_198156.3:c.341-3233del NP_937799.1:n.341-3233del
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