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Hello,


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<div class="">Sorry to be back with what appears to be another bug in the Ensembl Variation API!</div>


<div class="">Not sure if you’re aware of this.</div>


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<div class="">The hgvsp syntax for the CDS variant ‘ENST00000304494.5:c.330_331delGGinsAA’ as returned by VEP is</div>


<div class="">‘ENSP00000307101.5:p.TrpGly110TerSer’</div>


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<div class="">According to HGVS rules, the correct AA syntax should be ‘p.Trp110_Gly111delinsTer’ or ‘p.Trp110Ter’. (I’m not sure which is more appropriate here as they both seem correct)</div>


<div class="">A substitution of more than one AA should be reported as a delins.</div>


<div class="">See the 2nd question in the ‘Q&A’ section.</div>


<div class=""><a href="http://varnomen.hgvs.org/recommendations/protein/variant/delins/" class="">http://varnomen.hgvs.org/recommendations/protein/variant/delins/</a></div>


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<div class="">A simpler example is ‘ENST00000301067.7:c.258_259delGTinsTA’ </div>


<div class="">VEP hgvsp <span class="Apple-tab-span" style="white-space:pre"></span>= ‘ENSP00000301067.7:p.GluLeu86AspMet’</div>


<div class="">correct syntax <span class="Apple-tab-span" style="white-space:pre">


</span>= ‘ENSP00000301067.7:p.Glu86_Leu87delinsAspMet'</div>


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<div class="">I think this is caused by the difference in the definition of the term ’substitution’ between Ensembl and HGVS.</div>


<div class=""><a href="https://www.ensembl.org/info/genome/variation/index.html" class="">https://www.ensembl.org/info/genome/variation/index.html</a></div>


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<div class="">Regards,</div>


<div class="">Bhavana</div>


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Bhavana Harsha<br class="">


Bioinformatician<br class="">


COSMIC<br class="">


Wellcome Trust Sanger Institute<br class="">


Hinxton, UK<br class="">


CB10 1SA<br class="">


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