Canonical Allele Identifier: CA645524667
Gene: VHL HGNC NCBI

Linked Data

COSMIC: COSM18391

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142025_10142134del , CM000665.2:g.10142025_10142134del GRCh38
NC_000003.11:g.10183709_10183818del , CM000665.1:g.10183709_10183818del GRCh37
NC_000003.10:g.10158709_10158818del NCBI36
NG_008212.3:g.5391_5500del , LRG_322:g.5391_5500del

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.178_287del ENSP00000512434.1:p.Arg60AlafsTer?
ENST00000696143.1:c.178_287del ENSP00000512435.1:p.Arg60AlafsTer?
ENST00000696153.1:c.178_287del ENSP00000512444.1:p.Arg60AlafsTer?
ENST00000256474.3:c.178_287del MANE Select ENSP00000256474.3:p.Arg60AlafsTer?
ENST00000256474.2:c.178_287del ENSP00000256474.2:p.Arg60AlafsTer?
ENST00000345392.2:c.178_287del ENSP00000344757.2:p.Arg60AlafsTer?
NM_000551.3:c.178_287del , LRG_322t1:c.178_287del NP_000542.1:p.Arg60AlafsTer?
NM_198156.2:c.178_287del NP_937799.1:p.Arg60AlafsTer?
XM_011534078.1:c.178_287del XP_011532380.1:p.Arg60AlafsTer?
NM_001354723.1:c.178_287del NP_001341652.1:p.Arg60AlafsTer?
NM_000551.4:c.178_287del MANE Select NP_000542.1:p.Arg60AlafsTer?
NM_001354723.2:c.178_287del NP_001341652.1:p.Arg60AlafsTer?
NM_198156.3:c.178_287del NP_937799.1:p.Arg60AlafsTer?