IGV insertions
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4 months ago

IGV screenshot

Using CLC I get the following mutation:

KEAP1 ENST00000171111:c.254dupA ENSP00000171111:p.Tyr85fs

but why is it dupA, although a "T" is inserted!? It should be correct: c.254insT isnĀ“t it!? Or is it because KEAP1 is on the negative strand on chrom. 19 and the igf refers always to the positive direction!?

Because if it would be dupA then you get a stop codon, p.Tyr85Ter, but if it is insT you get a frameshift and a subsequent stop after 10 aa or so...So at the end its truncating, but I am a little bit confused^^

Thx for advice.

insertions IGV • 203 views

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