Canonical Allele Identifier: CA658795184
Gene: VHL HGNC NCBI

Linked Data

CIViC: CA658795184
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149871del , CM000665.2:g.10149871del GRCh38
NC_000003.11:g.10191555del , CM000665.1:g.10191555del GRCh37
NC_000003.10:g.10166555del NCBI36
NG_008212.3:g.13237del , LRG_322:g.13237del

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*225del ENSP00000512434.1:n.*225del
ENST00000696143.1:c.684del ENSP00000512435.1:n.684del
ENST00000696153.1:c.659del ENSP00000512444.1:p.Ser220CysfsTer19
ENST00000256474.3:c.548del MANE Select ENSP00000256474.3:p.Ser183CysfsTer19
ENST00000256474.2:c.548del ENSP00000256474.2:p.Ser183CysfsTer19
ENST00000345392.2:c.425del ENSP00000344757.2:p.Ser142CysfsTer19
ENST00000477538.1:n.684del
NM_000551.3:c.548del , LRG_322t1:c.548del NP_000542.1:p.Ser183CysfsTer19
NM_198156.2:c.425del NP_937799.1:p.Ser142CysfsTer19
NM_001354723.1:c.*102del NP_001341652.1:n.*102del
NM_000551.4:c.548del MANE Select NP_000542.1:p.Ser183CysfsTer19
NM_001354723.2:c.*102del NP_001341652.1:n.*102del
NM_198156.3:c.425del NP_937799.1:p.Ser142CysfsTer19
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