Canonical Allele Identifier: CA540875341
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 1676867
ClinVar RCV Id: RCV002222783
dbSNP Id: rs1696098774

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10141556_10141557insAAA , CM000665.2:g.10141556_10141557insAAA GRCh38
NC_000003.11:g.10183240_10183241insAAA , CM000665.1:g.10183240_10183241insAAA GRCh37
NC_000003.10:g.10158240_10158241insAAA NCBI36
NG_008212.3:g.4922_4923insAAA , LRG_322:g.4922_4923insAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000256474.2:c.-292_-291insAAA ENSP00000256474.2:n.-292_-291insAAA