Enter a variant below to see its SpliceAI and Pangolin scores
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Examples   (on hg38):
chr8   140300616   T   G
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) [show more examples]
Genome version:
Max distance:
SpliceAI-lookup/issues: issues or feature requests for this website

Related web tools:
liftover: for variants/positions/intervals (hg19 <=> hg38 <=> T2T)
CMA search: search OMIM by interval, gene or phenotype
TGG Viewer: igv.js-based web viewer for public reference tracks and, optionally, private data in Google Storage buckets

March 7, 2024
- added warning for insertion variants with delta scores ≥ 0.2 and position = 0bp saying that they may be difficult to interpret due to issue #67. Thanks to @SophieCandille for the issue report and example variant: 2:47790924 C>CAGTTG
- moved server to Google Cloud Run to better support higher usage

[show older updates]