Alleles

[lossinc]

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]

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