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This is somewhat similar to #201 although I observed this before 201 being fixed.
Genome GRCm38, ENSMUST00000006221
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT
chr11 21319856 . T C 123 . . .
The variant is located at AAG AGG (T)GA TGA CAG so the first stop codon becomes CGA (a stop loss), but the 3'UTR being translated downstream then stops immediately, because there are two consecutive stop codons (first time I see this).
The annotation is reported as
Insertion(aa_ref='', aa_ref='R')
For all practical purposes, the annotation is usable, since it gets the amino-acids right. But it should be marked as StopLoss. Therefore, I'd say this is low priority. VEP and ANNOVAR get the stoploss right (but they don't translate the 3'utr in case of stop losses; there is a VEP issue about it).
The text was updated successfully, but these errors were encountered:
This is somewhat similar to #201 although I observed this before 201 being fixed.
Genome GRCm38, ENSMUST00000006221
The variant is located at
AAG AGG (T)GA TGA CAG
so the first stop codon becomesCGA
(a stop loss), but the 3'UTR being translated downstream then stops immediately, because there are two consecutive stop codons (first time I see this).The annotation is reported as
For all practical purposes, the annotation is usable, since it gets the amino-acids right. But it should be marked as StopLoss. Therefore, I'd say this is low priority. VEP and ANNOVAR get the stoploss right (but they don't translate the 3'utr in case of stop losses; there is a VEP issue about it).
The text was updated successfully, but these errors were encountered: