Canonical Allele Identifier: CA2499216371
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 997724
ClinVar RCV Id: RCV001293281

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10143181_10152298del , CM000665.2:g.10143181_10152298del GRCh38
NC_000003.11:g.10184865_10193982del , CM000665.1:g.10184865_10193982del GRCh37
NC_000003.10:g.10159865_10168982del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000256474.3:c.340+994_*2333del
NM_000551.4:c.340+994_*2333del
NM_001354723.2:c.*17+160_*2529del
NM_198156.3:c.340+994_*2333del