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mutalyzer / mutalyzer2

HGVS variant nomenclature checker
https://mutalyzer.nl
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Alleles #506

Open lossinc opened 4 years ago

lossinc commented 4 years ago

HGVS permits notation of multiple variants in series, defining them as an allele (“a series of variants in a protein encoded by one chromosome”; see here). In mouse models, the terms “allele” is less restrictive: a genetic alteration involving only a single base is certainly considered an “allele”. Anyway, assuming multiple variants in close proximity, HGVS’ allele definition and associated rules provide convenient notation (e.g., NM_001290469.1:c[2401G>A; c.2404G>A] resulting in p.[(D801N;L802=)]. Mutalyzer, unfortunately, does not resolve this notation to the amino acid level. It would be excellent, if it were able to.

jfjlaros commented 4 years ago

We have plans to implement this in an upcoming version of Mutalyzer.