Canonical Allele Identifier: CA645525074
Gene: VHL HGNC NCBI

Linked Data

COSMIC: COSM14378 COSM423208
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149830_10149839del , CM000665.2:g.10149830_10149839del GRCh38
NC_000003.11:g.10191514_10191523del , CM000665.1:g.10191514_10191523del GRCh37
NC_000003.10:g.10166514_10166523del NCBI36
NG_008212.3:g.13196_13205del , LRG_322:g.13196_13205del

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*184_*193del ENSP00000512434.1:n.*184_*193del
ENST00000696143.1:c.643_652del ENSP00000512435.1:n.643_652del
ENST00000696153.1:c.618_627del ENSP00000512444.1:p.Val207ArgfsTer29
ENST00000256474.3:c.507_516del MANE Select ENSP00000256474.3:p.Val170ArgfsTer29
ENST00000256474.2:c.507_516del ENSP00000256474.2:p.Val170ArgfsTer29
ENST00000345392.2:c.384_393del ENSP00000344757.2:p.Val129ArgfsTer29
ENST00000477538.1:n.643_652del
NM_000551.3:c.507_516del , LRG_322t1:c.507_516del NP_000542.1:p.Val170ArgfsTer29
NM_198156.2:c.384_393del NP_937799.1:p.Val129ArgfsTer29
NM_001354723.1:c.*61_*70del NP_001341652.1:n.*61_*70del
NM_000551.4:c.507_516del MANE Select NP_000542.1:p.Val170ArgfsTer29
NM_001354723.2:c.*61_*70del NP_001341652.1:n.*61_*70del
NM_198156.3:c.384_393del NP_937799.1:p.Val129ArgfsTer29
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