He there ,
I was checking my cDNA annotation (annotates by VEP ) on web and i agreed in lot of point with mutalyser until this example concerning this variant NM_000249.3:c.1484delC ( https://mutalyzer.nl/name-checker?description=NM_000249.3%3Ac.1484delC ) (with genomic position on hg19 : chr3-37070348) :
Can someone explain to me why it's write :
Raw variant 1: deletion of 1682
or my variant is in position c.1484 ?
same for this
my variant is in c.1484 and not c.1489 ? To me c.1484 is the result of Left Align processing isn't it ? I checked in gnomAD : http://gnomad.broadinstitute.org/variant/3-37070348-AC-A .
I'm confused with this no coherent results.