[ensembl-dev] VEP frameshift interpretation

Sarah Hunt seh at ebi.ac.uk
Tue Feb 25 09:42:33 GMT 2014


Hi Venu,

Yes, VEP does translate the 3'UTR if a stop is not found within the
original coding sequence. As you say, if a new stop codon is found,
the number of amino acids between the first aa change and stop are
appended to the end of the HGVS description (eg. p.Gln655ArgfsTer17).
If a new stop is not found, the HGVS description ends with Ter? (eg
Gln655ArgfsTer?).

Best wishes,

Sarah




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