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Splice donor variant protein change descriptor does not follow HGVS

Open nh13 opened this issue 2 years ago • 0 comments

For the splice donor variant ENST00000456556.1:c.1662_1662+1delGGinsAA, SnpEff produces the protein change descriptor ENST00000456556.1:p.555.

I could not find a variant type where this would be valid in the Sequence Variant Nomenclature for proteins.

Inputting he cDNA description into mutalyzer does not yield a protein prediction, only a "splice site affected" result. I think there should not be a protein change descriptor here.

nh13 avatar Apr 25 '23 21:04 nh13