Canonical Allele Identifier: CA2499216388
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 997767
ClinVar RCV Id: RCV001293324

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10148561_10152736del , CM000665.2:g.10148561_10152736del GRCh38
NC_000003.11:g.10190245_10194420del , CM000665.1:g.10190245_10194420del GRCh37
NC_000003.10:g.10165245_10169420del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000256474.3:c.464-1226_*2771del
NM_000551.4:c.464-1226_*2771del
NM_001354723.2:c.*18-1226_*2967del
NM_198156.3:c.341-1226_*2771del