mutalyzer / mutalyzer2

HGVS variant nomenclature checker
https://mutalyzer.nl
Other
98 stars 23 forks source link

Inconsistency in protein prediction. #422

Open jfjlaros opened 7 years ago

jfjlaros commented 7 years ago

Variant NM_000061.2:c.-5_-1del is corrected by Mutalyzer to NM_000061.2:c.-4_1del, which is correct. The protein prediction however differs for the two variants:

NM_000061.2:c.-4_1del -> p.? NM000061.2:c.-5-1del -> p.(=)

This is an unexpected difference.