openvar / variantValidator

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Required information for ENST00000305799.8 is missing from the Universal Transcript Archive #629

Open ifokkema opened 2 weeks ago

ifokkema commented 2 weeks ago

Describe the bug When checking ENST00000305799.1:c.22G>A, VV replies:

The transcript ENST00000305799.1 is not in our database. Please check the transcript ID
The following versions of the requested transcript are available in our database: ENST00000305799.8

But when I then try that transcript, I get:

Required information for ENST00000305799.8 is missing from the Universal Transcript Archive
Query gene2transcripts with search term ENST00000305799 for available transcripts

Note that the gene2transcripts output seems to be just fine for ENST00000305799.8.

To Reproduce Steps to reproduce the behavior:

  1. https://rest.variantvalidator.org/VariantValidator/variantvalidator_ensembl/GRCh38/ENST00000305799.1%3Ac.22G%3EA/all/?content-type=application%2Fjson
  2. https://rest.variantvalidator.org/VariantValidator/variantvalidator_ensembl/GRCh38/ENST00000305799.8%3Ac.22G%3EA/all/?content-type=application%2Fjson

Expected behavior When I get a transcript suggested that I can use, I expect it to work.

ifokkema commented 2 weeks ago

There's actually a very large list of Ensembl IDs where this happens. First, VV suggested using it, but then when I tried, it didn't work. So far, I haven't been able to generate genomic mappings for Ensembl transcripts at all. I can provide a (long) list if needed.