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bcgsc / mavis

Merging, Annotation, Validation, and Illustration of Structural variants
http://mavis.bcgsc.ca
GNU General Public License v3.0
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HGVS protein dup in repeat notation error #147

Closed creisle closed 6 years ago

creisle commented 6 years ago

MAVIS version: 2.1.1

Python version: 3.6

OS: centos07

Expected Behaviour

Single AA duplication should have p.X#dupX type notation

Actual Behaviour

When the AA duplication is in a repeated AA region it is instead calling an indel over the entire repeated region

creisle commented 6 years ago

Another annotation error occurs when there is a reference AA sequence that did not use the largest ORF. Then when the protein mutation is called, it calls an insertion even though there isn't one