[ensembl-dev] Stop-retained frameshift

Konrad Karczewski konradk at broadinstitute.org
Mon Jul 13 15:49:51 BST 2015

Hi Will/VEP,

Me again. We found a fairly exotic corner case variant (http://exac.broadinstitute.org/variant/1-204159611-CT-C <http://exac.broadinstitute.org/variant/1-204159611-CT-C>): it's annotated in VEP as a "frameshift" (confirmed it does the same in v80) that deletes the last base of a transcript, but actually results in a stop-retained variant, so I suppose in a sense be a synonymous-like variant?


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