[ensembl-dev] VEP - HGVS syntax coords reversed

[Bhavana Harsha]

Hello,

I’m trying to look at the transcript consequences of the following variant:
17:g.7577607_7578174del

using the REST API like this:
http://grch37.rest.ensembl.org/vep/human/hgvs/17:g.7577607_7578174del?content-type=application/json;xref_refseq=1&canonical=1&ccds=1&hgvs=1

This is what I get for one of the transcripts:
ENST00000269305.4:c.674_672+3delCTGG….

Shouldn’t the correct syntax be ENST00000269305.4:c.672+3_674delCTGG..?

(Other transcript consequences for this variant appear to have a similar issue - ENST00000504290.1:n.556_554+3delCTGGT…)

I get the same result using the VEP web interface.



Regards,
Bhavana






---------------------------------------------
Bhavana Harsha
Bioinformatician
COSMIC
Wellcome Trust Sanger Institute
Hinxton, UK
CB10 1SA



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