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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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Add support for HGVS protein extension variants #148

Closed creisle closed 6 years ago

creisle commented 6 years ago

Currently MAVIS calls protein AA insertions which extend the reading frame N-terminally as M1insXXX which is incorrect HGVS notation. Properly these would be labelled as p.M1ext-#

see: http://varnomen.hgvs.org/recommendations/protein/variant/extension/

creisle commented 6 years ago

Added support in 3082a4ab37f1923067bc50de1eab0ebd16047818