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## Describe the issue
There are some differences between cDNA length for RefSeq transcript when using downloaded merged cache compared to the genbank. One of the transcript is NR_038327.2
## Addit…
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When I submitted a mutation:
NM_001164277:c.925_928delinsTC
to Transvar
with these options:
Reverse annotation cDNA, GRCh37, RefSeq
I got "p.G309Sfs*3" and "chr11:g.118896734_118896737d…
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I'd like to request a term for neurodevelopmental disorder with microcephaly and spastic paraplegia.
OMIM: https://www.omim.org/entry/616281
Potential definition: Neurodevelopmental disorder wit…
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```
Proxy Error
The proxy server received an invalid response from an upstream server.
The proxy server could not handle the request POST /services/datafaqs/core/augment-datasets/with-preferred-uri-an…
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annotSV version `3.4`
Hi,
Maybe I'm missing something in the docs, but is there a way to include ensembl IDs and/or HGNC IDs along with gene name in annotSVs output? Here are the columns I have …
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There seems to be a mismatch between the LUI pattern for MGI (`^MGI:\d+$`) and the URL patterns (e.g. `http://www.informatics.jax.org/accession/MGI:{$id}`) for the Mouse Genome Database resources.
…
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I read the introduction part about applying SCENIC into another species. It suggests us to download cis element database and other settings. But I am still confused. Could you give some more details …
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New term request Neuraminidase 1 low in fibroblasts or leukocytes (f387): alpha neuraminidase
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I'd like to request a term for glutamine deficiency, congenital (this is what OMIM uses but less awkward terms are available, see below). Whether this should be two separate diseases or not, I will le…
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I'd like to request a term for 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
OMIM: https://www.omim.org/entry/246450
Potential definition: 3-hydroxy-3-methylglutaryl-CoA lyase deficiency has_…