Closed cbizon closed 9 years ago
In both cases, I would call these frameshifts. It is true that there is also a start lost and a stop gained; I would put these in the auxialliary-amino-acid-change-type.
In other words, frameshift has priority over the other types, even if they are not disjoint.
The primary-amino-acid-change-type
http://datamodel.clinicalgenome.org/allele/implementation/value_set_list/primary_amino_acid_change_type.html
were initially supposed to be a disjoint set of annotations so that each amino acid allele could be assigned a single type algorithmically.
Ronak pointed out that frameshift can happen in conjunction with gains/losses of start/stops, we we need to decid what to do:
Stop_gained or frameshift? NP_000305.3:p.Thr319Terfs (http://www.ncbi.nlm.nih.gov/clinvar/variation/71118/)
start_lost or frameshift? NP_000050.2:p.Met1Ilefs: (http://www.ncbi.nlm.nih.gov/clinvar/variation/37872/)