Canonical Allele Identifier: CA645524877
Gene: VHL HGNC NCBI

Linked Data

COSMIC: COSM17751

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10146515_10146542del , CM000665.2:g.10146515_10146542del GRCh38
NC_000003.11:g.10188199_10188226del , CM000665.1:g.10188199_10188226del GRCh37
NC_000003.10:g.10163199_10163226del NCBI36
NG_008212.3:g.9881_9908del , LRG_322:g.9881_9908del

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*19_*46del
ENST00000696143.1:c.600-3272_600-3245del ENSP00000512435.1:n.600-3272_600-3245del
ENST00000696153.1:c.342_369del
ENST00000256474.3:c.342_369del
ENST00000256474.2:c.342_369del
ENST00000345392.2:c.341-3272_341-3245del ENSP00000344757.2:n.341-3272_341-3245del
ENST00000477538.1:n.478_505del
NM_000551.3:c.342_369del , LRG_322t1:c.342_369del
NM_198156.2:c.341-3272_341-3245del NP_937799.1:n.341-3272_341-3245del
XM_011534078.1:c.*19_*46del
NM_001354723.1:c.*18-3272_*18-3245del NP_001341652.1:n.*18-3272_*18-3245del
NM_000551.4:c.342_369del
NM_001354723.2:c.*18-3272_*18-3245del NP_001341652.1:n.*18-3272_*18-3245del
NM_198156.3:c.341-3272_341-3245del NP_937799.1:n.341-3272_341-3245del