Canonical Allele Identifier: CA645524639
Gene: VHL HGNC NCBI

Linked Data

COSMIC: COSM17673

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142009_10142013del , CM000665.2:g.10142009_10142013del GRCh38
NC_000003.11:g.10183693_10183697del , CM000665.1:g.10183693_10183697del GRCh37
NC_000003.10:g.10158693_10158697del NCBI36
NG_008212.3:g.5375_5379del , LRG_322:g.5375_5379del

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.162_166del ENSP00000512434.1:p.Met54IlefsTer?
ENST00000696143.1:c.162_166del ENSP00000512435.1:p.Met54IlefsTer?
ENST00000696153.1:c.162_166del ENSP00000512444.1:p.Met54IlefsTer?
ENST00000256474.3:c.162_166del MANE Select ENSP00000256474.3:p.Met54IlefsTer?
ENST00000256474.2:c.162_166del ENSP00000256474.2:p.Met54IlefsTer?
ENST00000345392.2:c.162_166del ENSP00000344757.2:p.Met54IlefsTer?
NM_000551.3:c.162_166del , LRG_322t1:c.162_166del NP_000542.1:p.Met54IlefsTer?
NM_198156.2:c.162_166del NP_937799.1:p.Met54IlefsTer?
XM_011534078.1:c.162_166del XP_011532380.1:p.Met54IlefsTer?
NM_001354723.1:c.162_166del NP_001341652.1:p.Met54IlefsTer?
NM_000551.4:c.162_166del MANE Select NP_000542.1:p.Met54IlefsTer?
NM_001354723.2:c.162_166del NP_001341652.1:p.Met54IlefsTer?
NM_198156.3:c.162_166del NP_937799.1:p.Met54IlefsTer?