Canonical Allele Identifier: CA357018
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 223212
dbSNP Id: rs869025653

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10146617del , CM000665.2:g.10146617del GRCh38
NC_000003.11:g.10188301del , CM000665.1:g.10188301del GRCh37
NC_000003.10:g.10163301del NCBI36
NG_008212.3:g.9983del , LRG_322:g.9983del

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*121del ENSP00000512434.1:n.*121del
ENST00000696143.1:c.600-3170del ENSP00000512435.1:n.600-3170del
ENST00000696153.1:c.444del ENSP00000512444.1:p.Phe148LeufsTer21
ENST00000256474.3:c.444del MANE Select ENSP00000256474.3:p.Phe148LeufsTer11
ENST00000256474.2:c.444del ENSP00000256474.2:p.Phe148LeufsTer11
ENST00000345392.2:c.341-3170del ENSP00000344757.2:n.341-3170del
ENST00000477538.1:n.580del
NM_000551.3:c.444del , LRG_322t1:c.444del NP_000542.1:p.Phe148LeufsTer11
NM_198156.2:c.341-3170del NP_937799.1:n.341-3170del
NM_001354723.1:c.*18-3170del NP_001341652.1:n.*18-3170del
NM_000551.4:c.444del MANE Select NP_000542.1:p.Phe148LeufsTer11
NM_001354723.2:c.*18-3170del NP_001341652.1:n.*18-3170del
NM_198156.3:c.341-3170del NP_937799.1:n.341-3170del