Since references to web sites are not yet acknowledged as citations, please mention Den Dunnen et al. (2016) HGVS recommendations for the description of sequence variants: 2016 update. Hum.Mutat. 25: 37: 564-569 when referring to these pages. Note that although the examples on these pages mainly give examples for human (Homo sapiens), the recommendations can be applied to all species.

Make sure you have also seen the (Basics, explaining the history of these recommendations, the process of making changes, the versioning of the recommendations and important remarks on terminology.

General recommendations

Characters used

In HGVS nomenclature some characters have a specific meaning

Abbreviations in variant descriptions

Specific abbreviations are used to describe different variant types.