Canonical Allele Identifier: CA432421927
Gene: VHL HGNC NCBI

Linked Data

COSMIC: COSM17907
MyVariant Identifiers: chr3:g.10188320del (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10146637del , CM000665.2:g.10146637del GRCh38
NC_000003.11:g.10188321del , CM000665.1:g.10188321del GRCh37
NC_000003.10:g.10163321del NCBI36
NG_008212.3:g.10003del , LRG_322:g.10003del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.*140+1del
ENST00000696143.1:c.600-3150del ENSP00000512435.1:n.600-3150del
ENST00000696153.1:c.463+1del
ENST00000256474.3:c.463+1del
ENST00000256474.2:c.463+1del
ENST00000345392.2:c.341-3150del ENSP00000344757.2:n.341-3150del
ENST00000477538.1:n.599+1del
NM_000551.3:c.463+1del , LRG_322t1:c.463+1del
NM_198156.2:c.341-3150del NP_937799.1:n.341-3150del
NM_001354723.1:c.*18-3150del NP_001341652.1:n.*18-3150del
NM_000551.4:c.463+1del
NM_001354723.2:c.*18-3150del NP_001341652.1:n.*18-3150del
NM_198156.3:c.341-3150del NP_937799.1:n.341-3150del