From 928d0e297c2c14ca9b3b8b59f0a6cbfb4594c0fd Mon Sep 17 00:00:00 2001 From: "Johan T. den Dunnen" Date: Thu, 9 Feb 2023 17:19:48 +0100 Subject: [PATCH] corrected ins --- _recommendations/protein/variant/description/delins-desc.md | 2 +- 1 file changed, 1 insertion(+), 1 deletion(-) diff --git a/_recommendations/protein/variant/description/delins-desc.md b/_recommendations/protein/variant/description/delins-desc.md index 929fd64..ffdcf90 100644 --- a/_recommendations/protein/variant/description/delins-desc.md +++ b/_recommendations/protein/variant/description/delins-desc.md @@ -24,7 +24,7 @@ Format: **"prefix""amino_acid(s)+position(s)\_deleted""delins""inserted\_seque * the description p.Arg76\_Cys77delinsSerTrp is correct, the description p.[Arg76Ser;Cys77Trp] is not correct. * two variants separated by one or more amino acids should be described individually and not as a “delins”. * for all descriptions the **most C-terminal position** possible of the reference sequence is arbitrarily assigned to have been changed (_**3'rule**_). -* when the inserted amino acid sequence is large the insertion may be described by its length only, e.g. p.Arg456_Leu488delinsX[54] +* when the inserted amino acid sequence is large the insertion may be described by its length, e.g. p.Lys2\_Leu3insX[34] (open reading frame insertion) or p.Lys2\_Leu3insTer12 (translation stop in inserted sequence). * _**NOTE**_: the inserted amino acid sequence can be derived from the description od the variant at DNA or RNA level. * deletion/insertion variants extending the full-length amino acid sequence at the C-terminal end with one or more amino acids are described as [_Extension_](/recommendations/protein/variant/extension). * deletion-insertion variants at the DNA or RNA level.