Canonical Allele Identifier: CA2499216382
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 997752
ClinVar RCV Id: RCV001293309

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10146465_10152780del , CM000665.2:g.10146465_10152780del GRCh38
NC_000003.11:g.10188149_10194464del , CM000665.1:g.10188149_10194464del GRCh37
NC_000003.10:g.10163149_10169464del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000256474.3:c.341-49_*2815del
NM_000551.4:c.341-49_*2815del
NM_001354723.2:c.*18-3322_*3011del
NM_198156.3:c.341-3322_*2815del