Variant Descriptions

Variant Descriptions

The Mutalyzer nomenclature checker accepts variant descriptions in standard human sequence variant nomenclature format. For users, who are not familiar with the nomenclature syntax, Mutalyzer's Name Generator provides a form to acquire the separate components necessary to construct variant descriptions.

These components, which are discussed in more detail are:

1. Position numbering scheme (Sequence Type).

2. Gene symbol, transcript variant and protein isoform.

3. Variant start and end positions.

4. Variation type.

5. Deleted and Inserted sequence.