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Normalizer generates inconsistent description formats for repeats at c. and r. level with c. duplication input #31

Open ptaschner opened 11 months ago

ptaschner commented 11 months ago

Normalizer input NM_001003187.1:c.877_879dup results in correction to NM_001003187.1:c.876_879[7] due to the repeat expansion, but generates NM_001003187.1:r.(876_879delinsccccccc) for the same repeat at the RNA level (see https://mutalyzer.nl/normalizer/NM_001003187.1:c.877_879dup). Re-checking NM_001003187.1:r.(876_879delinsccccccc) results in correction to NM_001003187.1:r.876_879[7], which I was expecting in case of consistent application of the repeat rules (see https://mutalyzer.nl/normalizer/NM_001003187.1:r.(876_879delinsccccccc). The info message correctly mentions that this transcript is not found in the human chromosomal references, because it is a canine transcript.