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zwdzwd / transvar

TransVar - multiway annotator for precision medicine
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discrepancy on genomic annotation #55

Open vswilliamson opened 2 years ago

vswilliamson commented 2 years ago

I have a variant located and annotated by my caller as CREBBP g.3781324_3781326del, c.5039_5041del, p.S1680del which when double-checked against your service returns CREBBP g.3781329_3781331del, c.5039_5041del, p.S1680del. The same variant checked against varsome provides a genomic start of chr6:3781324.

I was just curious as to the source of the discrepancy in the genomic positions. Is Transvar providing right alignment here instead of left?

Thanks in advance