![]() ![]() positions (genomic) would then lead to an incorrect genomic position (in the wrong exon) When. exception 3’ rule the 3’ rule is not applied when there is a deletion/duplication around exon/exon junctions with identical nucleotides flanking the junction, where shifting the variant 3’ would place it in the next exon.protein coding region numbering starts with “c.1” at the A of the ATG translation initiation (start) codon and ends with the last nucleotide of the translation termination (stop) codon, i.e.Nucleotide numbering is based on the annotated protein isoform, the major translation product. the preferred human mtDNA reference sequence is the Homo sapiens mitochondrion, complete genome (GenBank NC_012920.1).Nucleotide numbers based on a mitochondrial reference sequence do not include “+”, “-“, “*” or other prefixes. ![]() from the first to the last nucleotide of the reference sequence. Nucleotide numbering is m.1, m.2, m.3, …., etc. Nucleotide numbers based on a circualr reference sequence do not include “+”, “-“, “*” or other prefixes.Ī mitochnodrial reference sequence is a special circular genomic reference sequence. Nucleotide numbering is o.1, o.2, o.3, …, etc. Nucleotide numbers based on a genomic reference sequence do not include “+”, “-“, “*” or other prefixes. Nucleotide numbering is g.1, g.2, g.3, …, etc.
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