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On the 17 Dec 2014 benchmarking call, we discussed benchmarking tools to convert VCF and other sources of data into HGVS nomenclature (including entries made by tools that annotate VCF files).
This t…
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## Describe the issue
Some BND variants are missing vep annotations, while the rest have them.
## Additional information
### System
- VEP version: 113
- VEP Cache version: 113
### Full VEP…
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We're either going to add support for `_to_hgvs` for the CnvTranslator. Or we can deprecate the `translate_to` methods. Up to @larrybabb
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**Describe the bug**
There is something fishy with `NM_030582.4`. Take, e.g., this deletion that maps to this transcript: [`NC_000021.8:g.46924426_46924427del`](https://variantvalidator.org/service/v…
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Two TET2 variants in cis were obtained: NM_001127208.2:c.1484_1486del and NM_001127208.2:c.1489del
According to HGVS recommendations, these should be described as: NM_001127208.2:c.[1484_1486del;14…
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I am getting errors parsing HGVS repeats. For example, attempting to parse `NC_000014.8:g.101179660TG[14]` gives me:
```
line 1:25 mismatched input '[' expecting {NT_STRING, NT_MINUS, NT_PLUS}
j…
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The classifications page has a HGVS entry text box, where you can enter HGVS that fails (eg NM_007300.4:c.2902_2959inv) and classify against it.
This was done by passing the "classify" field to the s…
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The xml chunk for this variant is:
```xml
current
NM_000162.5(GCK):c.449T>C (p.Phe150Ser) AND Maturity-onset diabetes of the young type 2
current
criteria provi…
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Read VCF file, create HGVS ids. Assume latest build?
Low priority, use case not determined
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To support the definition of multiple target sequences for a single MaveDB score set, mavehgvs will need to support multi-variants across multiple target sequences.
The nomenclature for doing this is…