snpeff annotation query
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Entering edit mode
20 months ago
prasundutta87 ▴ 670

Hi,

I am looking in-depth into some snpeff annotation of structural variation and was checking a 3 kb insertion event from a multisample VCF. As usual, snpeff gave multiple annotations, even though I only wanted to have the canonical transcript. I think I have a small gap in understanding, but I would be grateful if I could be helped with this.

The hgnc notation for the 4 annotation are:

  1. c.*1745_*1746ins<insertion_sequence>
  2. c.*1745delGins<insertion_sequence>
  3. c.*1745delCins<insertion_sequence>
  4. c.*1745delAins<insertion_sequence>

I can understand what is happening in the first case. What's happening in the rest of the cases? Just to add, they all belong to the same transcript and is a downstream gene variant according to snpeff.

Regards,
Prasun

snpeff structural-variation VCF • 397 views
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