Canonical Allele Identifier: CA645524737
Gene: VHL HGNC NCBI

Linked Data

COSMIC: COSM17874

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142077dup , CM000665.2:g.10142077dup GRCh38
NC_000003.11:g.10183761dup , CM000665.1:g.10183761dup GRCh37
NC_000003.10:g.10158761dup NCBI36
NG_008212.3:g.5443dup , LRG_322:g.5443dup

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.230dup ENSP00000512434.1:p.Cys77TrpfsTer?
ENST00000696143.1:c.230dup ENSP00000512435.1:p.Cys77TrpfsTer?
ENST00000696153.1:c.230dup ENSP00000512444.1:p.Cys77TrpfsTer?
ENST00000256474.3:c.230dup MANE Select ENSP00000256474.3:p.Cys77TrpfsTer?
ENST00000256474.2:c.230dup ENSP00000256474.2:p.Cys77TrpfsTer?
ENST00000345392.2:c.230dup ENSP00000344757.2:p.Cys77TrpfsTer?
NM_000551.3:c.230dup , LRG_322t1:c.230dup NP_000542.1:p.Cys77TrpfsTer?
NM_198156.2:c.230dup NP_937799.1:p.Cys77TrpfsTer?
XM_011534078.1:c.230dup XP_011532380.1:p.Cys77TrpfsTer?
NM_001354723.1:c.230dup NP_001341652.1:p.Cys77TrpfsTer?
NM_000551.4:c.230dup MANE Select NP_000542.1:p.Cys77TrpfsTer?
NM_001354723.2:c.230dup NP_001341652.1:p.Cys77TrpfsTer?
NM_198156.3:c.230dup NP_937799.1:p.Cys77TrpfsTer?