Canonical Allele Identifier: CA645524844
Gene: VHL HGNC NCBI

Linked Data

COSMIC: COSM18077

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142167_10142170del , CM000665.2:g.10142167_10142170del GRCh38
NC_000003.11:g.10183851_10183854del , CM000665.1:g.10183851_10183854del GRCh37
NC_000003.10:g.10158851_10158854del NCBI36
NG_008212.3:g.5533_5536del , LRG_322:g.5533_5536del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.320_323del ENSP00000512434.1:p.Arg107ProfsTer9
ENST00000696143.1:c.320_323del ENSP00000512435.1:p.Arg107ProfsTer9
ENST00000696153.1:c.320_323del ENSP00000512444.1:p.Arg107ProfsTer?
ENST00000256474.3:c.320_323del MANE Select ENSP00000256474.3:p.Arg107ProfsTer?
ENST00000256474.2:c.320_323del ENSP00000256474.2:p.Arg107ProfsTer?
ENST00000345392.2:c.320_323del ENSP00000344757.2:p.Arg107ProfsTer10
NM_000551.3:c.320_323del , LRG_322t1:c.320_323del NP_000542.1:p.Arg107ProfsTer?
NM_198156.2:c.320_323del NP_937799.1:p.Arg107ProfsTer10
XM_011534078.1:c.320_323del XP_011532380.1:p.Arg107ProfsTer9
NM_001354723.1:c.320_323del NP_001341652.1:p.Arg107ProfsTer9
NM_000551.4:c.320_323del MANE Select NP_000542.1:p.Arg107ProfsTer?
NM_001354723.2:c.320_323del NP_001341652.1:p.Arg107ProfsTer9
NM_198156.3:c.320_323del NP_937799.1:p.Arg107ProfsTer10