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<p>Hi Luke,</p>
<p>After discussions with collaborators on the myriad of different
ways the same allele can be represented in HGVS, we removed the
deleted/duplicated bases to conform with the recommended rather
than permitted version of the nomenclature. There isn't a way to
include them at the moment. This could be added, but it would
contribute to the difficulty in comparing annotations across
different sources.<br>
</p>
<p>Best wishes,</p>
<p>Sarah<br>
</p>
<br>
<div class="moz-cite-prefix">On 11/12/2017 13:18, Luke Goodsell
wrote:<br>
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<p class="MsoNormal"><span style="font-size:11.0pt">Hi,<o:p></o:p></span></p>
<p class="MsoNormal"><span style="font-size:11.0pt"><o:p> </o:p></span></p>
<p class="MsoNormal"><span style="font-size:11.0pt">We’ve
noticed since upgrading from e!88 to e!90 that the
deleted/duplicated bases are no longer being reported in
HGVS strings. Is there a way to include them?<o:p></o:p></span></p>
<p class="MsoNormal"><span style="font-size:11.0pt"><o:p> </o:p></span></p>
<p class="MsoNormal"><span style="font-size:11.0pt">Out of
curiosity, why were they removed? It was my understanding
that they are not required by the HGVS spec, but that they
can be optionally included. We use them downstream as a way
to double-check the variant annotation.<o:p></o:p></span></p>
<p class="MsoNormal"><span style="font-size:11.0pt"><o:p> </o:p></span></p>
<p class="MsoNormal"><span style="font-size:11.0pt;color:black">Kind
regards,<o:p></o:p></span></p>
<p class="MsoNormal"><span style="font-size:11.0pt;color:black">Luke</span><o:p></o:p></p>
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