Canonical Allele Identifier: CA2499216384
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 997753
ClinVar RCV Id: RCV001293310

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10147075_10150956del , CM000665.2:g.10147075_10150956del GRCh38
NC_000003.11:g.10188759_10192640del , CM000665.1:g.10188759_10192640del GRCh37
NC_000003.10:g.10163759_10167640del NCBI36
NG_008212.3:g.10441_14322del , LRG_322:g.10441_14322del

Transcript Alleles

HGVS Amino-acid change
ENST00000256474.3:c.463+439_*991del
ENST00000256474.2:c.463+439_*991del
ENST00000345392.2:c.341-2712_*991del
NM_000551.3:c.463+439_*991del , LRG_322t1:c.463+439_*991del
NM_198156.2:c.341-2712_*991del
NM_001354723.1:c.*18-2712_*1187del
NM_000551.4:c.463+439_*991del
NM_001354723.2:c.*18-2712_*1187del
NM_198156.3:c.341-2712_*991del