GrammarΒΆ

The derived EBNF grammar does not consider all the HGVS nomenclature recommendations. Currently, the focus is mostly on descriptions at the DNA level. 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