Enter a variant below to see its SpliceAI and Pangolin scores
[more details]

Examples   (on hg38):
chr8   140300616   T   G
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) [show more examples]
Genome version:
Score type:
Max distance:
SpliceAI-lookup/issues: issues or feature requests for this website. SpliceAI/issues: issues with the underlying SpliceAI model.

Sep 14, 2023
- @pj-sullivan added controls to show/hide transcripts
- added MANE Select transcript labels
- updated to gencode v44 "basic" annotations (instead of comprehensive). These have fewer transcripts per gene.
- added demo of igv.js visualizations. TODO: allow users to select which tracks to show.

[show older updates]

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
SpliceAI scores:
Variant Gene
  = MANE Select transcript   = non-coding transcript
Δ  type Δ  score pre-mRNA position REF score ALT score
Pangolin scores:
Variant Gene Δ  type Δ  score pre-mRNA position REF score ALT score