Comments (2)
jfjlaros
commented on June 11, 2024
Both descriptions are normalised to NG_012337.3:g.6del, which seems correct to me. The relevant part of the reference sequence is as follows,
12345678
GGGCTTGG...
so according to the 3' rule, the T at position 6 should be described as deleted.
Perhaps I misunderstand your question?
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mathieulemieux
commented on June 11, 2024
@jfjlaros,
My mistake! Forgot to check for the 3' rule...
Thank you very much for your time; very appreciated!
Closing ticket now.
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Related Issues (20)
- Valid protein descriptions rejected.
- Bug? Incorrect p. generation in Normalizer with antisense insertions and duplications for NC refs HOT 1
- Different approach for RNA/protein descriptions HOT 1
- Coding transcript with no CDS annotation HOT 2
- Valid `r.` description rejected.
- Missing semantic check(s) in sequence mode.
- Inconsistent transcript selector correction.
- Short descriptions of variants are not interpreted correctly HOT 1
- Error in normalizer: UnknownSeq is deprecated in biopython 1.81 HOT 1
- Is the cache still supported? HOT 1
- Increase accepted query length of Description Extractor to 10 or 30kb?
- Disambiguation issue (selector). HOT 3
- Problem with Ensembl description
- Problem with NR_ description HOT 1
- Could someone kindly provide an example of using Mutalyzer3 API with Python? HOT 8
- unexpected keyword argument 'strand' HOT 4
- Coordinate system c does not match with M65131.1 c coordinate system. HOT 2
- Incorrect view for duplications on reverse strand HOT 6
- Add input support for other variant formats HOT 1
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