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Consecutive amino acids are invalid protein extension variants

Open nh13 opened this issue 2 years ago • 0 comments

SnpEff produces an invalid HGVS protein description for the following variant

cDNA: ENST00000417740.1:c.1503_1504delTGinsGA protein: ENST00000417740.1:p.TyrGly501*

For extension variants, it is invalid to have two consecutive amino acids. Instead, it should be p.Tyr501* as per mutalyzer

nh13 avatar Apr 25 '23 21:04 nh13