[ensembl-dev] Another multi-allelic issue

Will McLaren wm2 at ebi.ac.uk
Wed Aug 3 11:02:37 BST 2016


Thanks Konrad, this should be fixed on 85 now. I can patch previous
releases too if you're using an older one?

AGG->AG and AGG->A both resolve to a deletion, and internally things were
being keyed on the resolved ALT, which in both cases was "-" even though
they were deleting different things...

Will

On 3 August 2016 at 06:15, Konrad Karczewski <konradk at broadinstitute.org>
wrote:

> Hi Will, Ensembl folk,
>
> When annotating ExAC (yet again...), I found another issue with
> multi-allelics. The following variant:
>
> 20 31022441 . AGG AGGG,AG,TGG,A
>
> only gets 3 alleles annotated (15 total annotations, with 5 overlapping
> transcripts), and the final allele (AGG->A) appears to not get annotated.
>
> Seems to persist all the way up to v85. Any ideas why this might be the
> case?
>
> Thanks!
> -Konrad
>
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