Canonical Allele Identifier: CA915940709
Gene: VHL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10146527_10146528del , CM000665.2:g.10146527_10146528del GRCh38
NC_000003.11:g.10188211_10188212del , CM000665.1:g.10188211_10188212del GRCh37
NC_000003.10:g.10163211_10163212del NCBI36
NG_008212.3:g.9893_9894del , LRG_322:g.9893_9894del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.*31_*32del ENSP00000512434.1:n.*31_*32del
ENST00000696143.1:c.600-3260_600-3259del ENSP00000512435.1:n.600-3260_600-3259del
ENST00000696153.1:c.354_355del ENSP00000512444.1:p.Phe119GlnfsTer12
ENST00000256474.3:c.354_355del MANE Select ENSP00000256474.3:p.Phe119GlnfsTer12
ENST00000256474.2:c.354_355del ENSP00000256474.2:p.Phe119GlnfsTer12
ENST00000345392.2:c.341-3260_341-3259del ENSP00000344757.2:n.341-3260_341-3259del
ENST00000477538.1:n.490_491del
NM_000551.3:c.354_355del , LRG_322t1:c.354_355del NP_000542.1:p.Phe119GlnfsTer12
NM_198156.2:c.341-3260_341-3259del NP_937799.1:n.341-3260_341-3259del
XM_011534078.1:c.*31_*32del XP_011532380.1:n.*31_*32del
NM_001354723.1:c.*18-3260_*18-3259del NP_001341652.1:n.*18-3260_*18-3259del
NM_000551.4:c.354_355del MANE Select NP_000542.1:p.Phe119GlnfsTer12
NM_001354723.2:c.*18-3260_*18-3259del NP_001341652.1:n.*18-3260_*18-3259del
NM_198156.3:c.341-3260_341-3259del NP_937799.1:n.341-3260_341-3259del