[ensembl-dev] [VEP] consequence_term for two AA insertion
João Eiras
joao.eiras at gmail.com
Thu Nov 3 15:51:12 GMT 2016
Hi!
I'm building some tests for an application, and I found something
which is not entirely intelligible for me.
Consider the following VCF variant, and its effect on transcript
ENSMUST00000086738
#CHROM POS REF ALT
chr1 99772783 C CCCCAAA
It is annotated with consequence_terms "protein_altering_variant".
However, if I shift the variant left or right, or remove one of the
AAs, I get as expected an "inframe_insertion".
#CHROM POS REF ALT
chr1 99772782 A ACCCAAA
chr1 99772783 C CCCC
chr1 99772784 T TCCCAAA
Being that, I don't see any other differences in the annotation.
Why this difference ?
Thank you.
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