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Check HGVS with VEP #3

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Char-Al opened this issue Aug 31, 2021 · 3 comments
Closed

Check HGVS with VEP #3

Char-Al opened this issue Aug 31, 2021 · 3 comments
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bug Something isn't working question Further information is requested

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@Char-Al
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Char-Al commented Aug 31, 2021

Be careful with HGVS annotation.

Example :

VEP : chr2-179423163-TTCTC-T => chr2:g.179423168_179423171del => NM_133437.4:c.60404_60407del | NP_597681.4:p.Asn20135MetfsTer15 
VV :  chr2:g.179423168_179423171del => NM_133437.4:c.60400_60403del | NP_597681.4:p.(Glu20134IlefsTer16)
@Char-Al Char-Al added the question Further information is requested label Aug 31, 2021
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Char-Al commented Aug 31, 2021

Maybe see options :

https://www.ensembl.org/info/docs/tools/vep/script/vep_options.html#opt_shift_hgvs

--shift_3prime [0|1]
--shift_genomic [0|1]

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Char-Al commented Sep 29, 2021

see also #2

@Char-Al Char-Al mentioned this issue Sep 29, 2021
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@Char-Al Char-Al added the bug Something isn't working label Dec 7, 2021
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Char-Al commented Feb 16, 2022 •
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Fix with 354deb9 & Fix #2

@Char-Al Char-Al closed this as completed Feb 16, 2022
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