Canonical Allele Identifier: CA645524657
Gene: VHL HGNC NCBI

Linked Data

COSMIC: COSM14282

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142020_10142029del , CM000665.2:g.10142020_10142029del GRCh38
NC_000003.11:g.10183704_10183713del , CM000665.1:g.10183704_10183713del GRCh37
NC_000003.10:g.10158704_10158713del NCBI36
NG_008212.3:g.5386_5395del , LRG_322:g.5386_5395del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.173_182del ENSP00000512434.1:p.Arg58ProfsTer6
ENST00000696143.1:c.173_182del ENSP00000512435.1:p.Arg58ProfsTer6
ENST00000696153.1:c.173_182del ENSP00000512444.1:p.Arg58ProfsTer6
ENST00000256474.3:c.173_182del MANE Select ENSP00000256474.3:p.Arg58ProfsTer6
ENST00000256474.2:c.173_182del ENSP00000256474.2:p.Arg58ProfsTer6
ENST00000345392.2:c.173_182del ENSP00000344757.2:p.Arg58ProfsTer6
NM_000551.3:c.173_182del , LRG_322t1:c.173_182del NP_000542.1:p.Arg58ProfsTer6
NM_198156.2:c.173_182del NP_937799.1:p.Arg58ProfsTer6
XM_011534078.1:c.173_182del XP_011532380.1:p.Arg58ProfsTer6
NM_001354723.1:c.173_182del NP_001341652.1:p.Arg58ProfsTer6
NM_000551.4:c.173_182del MANE Select NP_000542.1:p.Arg58ProfsTer6
NM_001354723.2:c.173_182del NP_001341652.1:p.Arg58ProfsTer6
NM_198156.3:c.173_182del NP_937799.1:p.Arg58ProfsTer6