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Hello,


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<div class="">When I run VEP (GRCh37) using the following input :</div>


<div class="">3:g.41266017_41266633del</div>


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<div class="">I get ‘ENSP00000379486.3:p.Leu10_Ter142delinsTyr’</div>


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<div class="">We think the protein change should be ‘p.Leu10_Asn141del’, as confirmed by Mutalyzer.</div>


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<div class="">The ref peptide sequence returned does not correspond to the protein sequence in Ensembl for ‘ENSP00000379486.3’. (They start to deviate at position 80).</div>


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<div class="">I ran VEP using the REST API as well as the web interface, for GRCh37.</div>


<div class=""><a href="http://grch37.rest.ensembl.org/vep/human/hgvs/3:g.41266031_41266626del?content-type=application/json;xref_refseq=1&canonical=1&ccds=1&hgvs=1" class="">http://grch37.rest.ensembl.org/vep/human/hgvs/3:g.41266031_41266626del?content-type=application/json;xref_refseq=1&canonical=1&ccds=1&hgvs=1</a></div>


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<div class="">Is there something I’m doing wrong?</div>


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<div class="">Regards,</div>


<div class="">Bhavana</div>


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---------------------------------------------<br class="">


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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