Canonical Allele Identifier: CA645524727
Gene: VHL HGNC NCBI

Linked Data

COSMIC: COSM14432

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142073_10142079del , CM000665.2:g.10142073_10142079del GRCh38
NC_000003.11:g.10183757_10183763del , CM000665.1:g.10183757_10183763del GRCh37
NC_000003.10:g.10158757_10158763del NCBI36
NG_008212.3:g.5439_5445del , LRG_322:g.5439_5445del

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.226_232del ENSP00000512434.1:p.Phe76IlefsTer?
ENST00000696143.1:c.226_232del ENSP00000512435.1:p.Phe76IlefsTer?
ENST00000696153.1:c.226_232del ENSP00000512444.1:p.Phe76IlefsTer?
ENST00000256474.3:c.226_232del MANE Select ENSP00000256474.3:p.Phe76IlefsTer?
ENST00000256474.2:c.226_232del ENSP00000256474.2:p.Phe76IlefsTer?
ENST00000345392.2:c.226_232del ENSP00000344757.2:p.Phe76IlefsTer?
NM_000551.3:c.226_232del , LRG_322t1:c.226_232del NP_000542.1:p.Phe76IlefsTer?
NM_198156.2:c.226_232del NP_937799.1:p.Phe76IlefsTer?
XM_011534078.1:c.226_232del XP_011532380.1:p.Phe76IlefsTer?
NM_001354723.1:c.226_232del NP_001341652.1:p.Phe76IlefsTer?
NM_000551.4:c.226_232del MANE Select NP_000542.1:p.Phe76IlefsTer?
NM_001354723.2:c.226_232del NP_001341652.1:p.Phe76IlefsTer?
NM_198156.3:c.226_232del NP_937799.1:p.Phe76IlefsTer?