Canonical Allele Identifier: CA2499216347
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 997755
ClinVar RCV Id: RCV001293312

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10141523_10142610del , CM000665.2:g.10141523_10142610del GRCh38
NC_000003.11:g.10183207_10184294del , CM000665.1:g.10183207_10184294del GRCh37
NC_000003.10:g.10158207_10159294del NCBI36
NG_008212.3:g.4889_5976del , LRG_322:g.4889_5976del

Transcript Alleles

HGVS Amino-acid Change
ENST00000256474.2:c.-325_340+423del