Some of our archive websites will be unavailable on Wed 24th June 2020 for further necessary maintenance. The work will commence at 0900 UTC and is expected to last for a few hours. The sites that will be affected are the December 2016 site (Ensembl 87) and earlier. All later archives and other Ensembl resources will not be impacted. We apologise for any inconvenience this may cause.

Variants can be represented in myriad different ways; indeed, Ensembl VEP currently supports input in many different formats, including VCF, HGVS and SPDI. However, even within these specifications, variants can be described ambiguously. Insertions and deletions within repeated regions can be described at multiple different locations. For example, VCF describes variants using their most 5’ representation, while HGVS format describes a variant at its most 3’ location. 

Starting in Ensembl 100, VEP optionally normalises variants within repeated regions by shifting them as far as possible in the 3’ direction before consequence calculation. This standardises VEP output for equivalent variant alleles which are described using different conventions. 

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Today, Ensembl has joined the international scientific effort to tackle the COVID-19 pandemic. COVID-19 is caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), which has spread rapidly since emerging in late 2019. Our SARS-CoV-2 genome browser and related resources at covid-19.ensembl.org are intended to support both basic research and ongoing work to develop treatments, diagnostics and vaccines.

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