[ensembl-dev] why the frameshift variants are represented with 'X' as the aminoacid change?

[Andrew Parton]

Hi David,

We use X to describe a partial codon - to refer to a stop codon we use either * or Ter.

Kind Regards,
Andrew

> On 5 Dec 2018, at 11:04, David Tamborero <david.tamborero at gmail.com> wrote:
> 
> Hi there, 
> 
> I m realizing that when inputing a frameshift genomic variant, VEP annotates the corresponding protein change using 'X' as the alt aminoacid (is not 'X' normally refering to the stop codon?)
> 
> e.g. 8_90967511_CT/C  results in NBN p.466 R/X, but I will expect to have something like R466Gfs*18
> 
> thanks!
> d
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