Enter a variant below to see its SpliceAI and Pangolin scores
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Examples   (on hg38):
6   31740453   G   T
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) [show more examples]
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SpliceAI-lookup/issues: issues or feature requests for this website

June 20, 2024
- fixed SpliceAI visualizations to clarify positions of predicted splicing changes. See issue #70 for details.

June 3, 2024
- show the input variant's VEP consequence in the results table
- the Gencode gene track is now optional in the visualizations
- updated everything to Gencode v46

[show older updates]

Related web tools:
liftover: for variants/positions/intervals (hg19 <=> hg38 <=> T2T)
TGG Viewer: igv.js-based web viewer for public reference tracks and private data in Google Storage buckets. Has custom track types for RNA-seq splice junctions and gCNV variants.