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Mutalyzer Name Generator Help
The Name Generator aims to assist users, who are not familiar with all the details of the HGVS standard human sequence variant nomenclature, to construct variant descriptions. A form collects the separate components of a [VariantDescriptions variant description].
The initial form containing only reference sequence-related fields is extended upon data entry. The Gene symbol and Transcript variant fields are optional in combination with reference sequence records containing unambiguous annotation of a single gene, transcript or protein. In multi-gene records they are also optional when gene product-independent position numbering is used (e.g. Sequence Type: genomic or mitochondrial DNA).
All information entered appears as a link in HGVS format under the header Constructed HGVS Name.
Clicking this link will subsequently submit the variant description to the Name Checker, which will reconstruct the variant sequence according to the information provided and name it according to the HGVS standard human sequence variant nomenclature.
- Reference: AL449423.14
- Sequence Type: Coding DNA
- Gene symbol: CDKN2A
- Transcript: 1
- Mutation Type: Substitution
- Start Position: 112
- Deleted Sequence: C
- Inserted Sequence: T
Constructed HGVS Name
- Please click the link to check with the Name Checker AL449423.14(CDKN2A_v001):c.112C>T