GrammarΒΆ

The EBNF grammar, derived from the HGVS nomenclature recommendations and first formally described in Laros et al. (2011), is split across several files in the mutalyzer_hgvs_parser/ebnf/ directory and combined here for reference.

The grammar does not consider all the HGVS nomenclature recommendations. Examples of descriptions not supported:

  • LRG_199t1:c.[2376G>C];[3103del]

  • LRG_199t1:c.2376G>C(;)3103del

  • NC_000002.12:g.pter_8247756delins[NC_000011.10:g.pter_15825272]

  • NC_000009.12:g.pter_26393001delins102425452_qterinv

  • NC_000011.10::g.1999904_1999946|gom

At the same time, the grammar allows for descriptions which are not HGVS compliant, but interpretable, in order to help users reach a normalized description. Examples:

  • LRG_1:g.20>T

  • LRG_1:g.20_40>70_80

  • LRG_1:g.20_23delAATG

  • NG_012337.1(NM_003002.2):274G>T