Canonical Allele Identifier: CA2499216377
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 997730
ClinVar RCV Id: RCV001293287

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10145108_10153342del , CM000665.2:g.10145108_10153342del GRCh38
NC_000003.11:g.10186792_10195026del , CM000665.1:g.10186792_10195026del GRCh37
NC_000003.10:g.10161792_10170026del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000256474.3:c.341-1406_*3377del
NM_000551.4:c.341-1406_*3377del
NM_001354723.2:c.*17+2087_*3573del
NM_198156.3:c.340+2921_*3377del