Canonical Allele Identifier: CA2499216380
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 997733
ClinVar RCV Id: RCV001293290

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10145585_10153156del , CM000665.2:g.10145585_10153156del GRCh38
NC_000003.11:g.10187269_10194840del , CM000665.1:g.10187269_10194840del GRCh37
NC_000003.10:g.10162269_10169840del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000256474.3:c.341-929_*3191del
NM_000551.4:c.341-929_*3191del
NM_001354723.2:c.*17+2564_*3387del
NM_198156.3:c.340+3398_*3191del