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Long deletion variant not present in Gene page variant table

Open rileyhgrant opened this issue 1 year ago • 1 comments

Katie brought to our attention that in EFL1:

This long deletion variant exists in genomes only, and can be found by searching for it: https://gnomad.broadinstitute.org/variant/15-82225077-TCCGTGCCCCCCCTACCCACAGCCCAACTGCATCCCACCAAACATACACCATATTCCTAGCCCAGCCCAACTTTCCCCTTTCCCTTA-T?dataset=gnomad_r4

However, it does not show up in the Gene page variant table https://gnomad.broadinstitute.org/gene/ENSG00000140598?dataset=gnomad_r4

rileyhgrant avatar Jan 17 '24 21:01 rileyhgrant

From browser meeting, MS: on region page you can see it, it's a splice donor so its right on the exon boundary, and it being such a long deletion may take it outside of the region of exons in the gene

There's a whole region not on the gene page (...74, ...72). To troubleshoot more.

rileyhgrant avatar Jan 18 '24 20:01 rileyhgrant