Canonical Allele Identifier: CA645372717
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 433541
ClinVar RCV Id: RCV000504180
dbSNP Id: rs1553619239

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10141771_10141816del , CM000665.2:g.10141771_10141816del GRCh38
NC_000003.11:g.10183455_10183500del , CM000665.1:g.10183455_10183500del GRCh37
NC_000003.10:g.10158455_10158500del NCBI36
NG_008212.3:g.5137_5182del , LRG_322:g.5137_5182del

Transcript Alleles

HGVS Amino-acid change
ENST00000256474.2:c.-77_-32del ENSP00000256474.2:n.-77_-32del
NM_000551.3:c.-77_-32del , LRG_322t1:c.-77_-32del NP_000542.1:n.-77_-32del
NM_198156.2:c.-77_-32del NP_937799.1:n.-77_-32del
XM_011534078.1:c.-77_-32del XP_011532380.1:n.-77_-32del
NM_001354723.1:c.-77_-32del NP_001341652.1:n.-77_-32del