Canonical Allele Identifier: CA645525053
Gene: VHL HGNC NCBI

Linked Data

COSMIC: COSM5025145
CIViC: CA645525053
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149800_10149801insCA , CM000665.2:g.10149800_10149801insCA GRCh38
NC_000003.11:g.10191484_10191485insCA , CM000665.1:g.10191484_10191485insCA GRCh37
NC_000003.10:g.10166484_10166485insCA NCBI36
NG_008212.3:g.13166_13167insCA , LRG_322:g.13166_13167insCA

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*154_*155insCA ENSP00000512434.1:n.*154_*155insCA
ENST00000696143.1:c.613_614insCA ENSP00000512435.1:n.613_614insCA
ENST00000696153.1:c.588_589insCA ENSP00000512444.1:p.Glu197GlnfsTer11
ENST00000256474.3:c.477_478insCA MANE Select ENSP00000256474.3:p.Glu160GlnfsTer11
ENST00000256474.2:c.477_478insCA ENSP00000256474.2:p.Glu160GlnfsTer11
ENST00000345392.2:c.354_355insCA ENSP00000344757.2:p.Glu119GlnfsTer11
ENST00000477538.1:n.613_614insCA
NM_000551.3:c.477_478insCA , LRG_322t1:c.477_478insCA NP_000542.1:p.Glu160GlnfsTer11
NM_198156.2:c.354_355insCA NP_937799.1:p.Glu119GlnfsTer11
NM_001354723.1:c.*31_*32insCA NP_001341652.1:n.*31_*32insCA
NM_000551.4:c.477_478insCA MANE Select NP_000542.1:p.Glu160GlnfsTer11
NM_001354723.2:c.*31_*32insCA NP_001341652.1:n.*31_*32insCA
NM_198156.3:c.354_355insCA NP_937799.1:p.Glu119GlnfsTer11
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