Canonical Allele Identifier: CA2499216378
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 997731
ClinVar RCV Id: RCV001293288

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10145132_10153366del , CM000665.2:g.10145132_10153366del GRCh38
NC_000003.11:g.10186816_10195050del , CM000665.1:g.10186816_10195050del GRCh37
NC_000003.10:g.10161816_10170050del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000256474.3:c.341-1382_*3401del
NM_000551.4:c.341-1382_*3401del
NM_001354723.2:c.*17+2111_*3597del
NM_198156.3:c.340+2945_*3401del