Canonical Allele Identifier: CA645524933
Gene: VHL HGNC NCBI

Linked Data

COSMIC: COSM14420
CIViC: CA645524933
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10146571_10146574del , CM000665.2:g.10146571_10146574del GRCh38
NC_000003.11:g.10188255_10188258del , CM000665.1:g.10188255_10188258del GRCh37
NC_000003.10:g.10163255_10163258del NCBI36
NG_008212.3:g.9937_9940del , LRG_322:g.9937_9940del

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*75_*78del ENSP00000512434.1:n.*75_*78del
ENST00000696143.1:c.600-3216_600-3213del ENSP00000512435.1:n.600-3216_600-3213del
ENST00000696153.1:c.398_401del ENSP00000512444.1:p.Thr133AsnfsTer?
ENST00000256474.3:c.398_401del MANE Select ENSP00000256474.3:p.Thr133AsnfsTer25
ENST00000256474.2:c.398_401del ENSP00000256474.2:p.Thr133AsnfsTer25
ENST00000345392.2:c.341-3216_341-3213del ENSP00000344757.2:n.341-3216_341-3213del
ENST00000477538.1:n.534_537del
NM_000551.3:c.398_401del , LRG_322t1:c.398_401del NP_000542.1:p.Thr133AsnfsTer25
NM_198156.2:c.341-3216_341-3213del NP_937799.1:n.341-3216_341-3213del
XM_011534078.1:c.*75_*78del XP_011532380.1:n.*75_*78del
NM_001354723.1:c.*18-3216_*18-3213del NP_001341652.1:n.*18-3216_*18-3213del
NM_000551.4:c.398_401del MANE Select NP_000542.1:p.Thr133AsnfsTer25
NM_001354723.2:c.*18-3216_*18-3213del NP_001341652.1:n.*18-3216_*18-3213del
NM_198156.3:c.341-3216_341-3213del NP_937799.1:n.341-3216_341-3213del
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