Canonical Allele Identifier: CA2499216385
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 997762
ClinVar RCV Id: RCV001293319

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10147644_10152768del , CM000665.2:g.10147644_10152768del GRCh38
NC_000003.11:g.10189328_10194452del , CM000665.1:g.10189328_10194452del GRCh37
NC_000003.10:g.10164328_10169452del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000256474.3:c.463+1008_*2803del
NM_000551.4:c.463+1008_*2803del
NM_001354723.2:c.*18-2143_*2999del
NM_198156.3:c.341-2143_*2803del