Processing sequences

Alignment Summary

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Sequence alignment


Click the Variant Details button below to show variant details.


We have standardized our variant notation to following the 3' rule of HGVS (see their statement below). But for your reference, we also show the alternative notation, if previously reported, with position in red.

Quote from HGVS: "For deletions, duplications and insertions the most 3' position possible is arbitrarily assigned to have been changed. This rule also applies to variants in single residue stretches (mono-nucleotide or amino acid) or tandem repeats."