[ensembl-dev] VEP reporting HGVS format for an insertion without 3' shifting across tandem repeat
kandoth at cbio.mskcc.org
Thu May 21 20:29:46 BST 2015
Here is a VCF-format example of an insertion within a tandem repeat region,
that reports HGVSp = p.Ala771_Tyr772ins.
17 37880984 . A ATACGTGATGGCT . . .
HGVS, at least for deletions, states "the most 3' position possible is
arbitrarily assigned to have been changed". This is different from the
oft-used convention of "left-shifting" indels. So what's the correct
This one's pretty complicated and I'm still trying to get my head around
it. But I would love to hear from someone who worked on implementing HGVS
notations into VEP.
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