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. 2023 Nov 29;32(5):513–520. doi: 10.1038/s41431-023-01494-7

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© The Author(s) 2023, corrected publication 2023

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Fig. 3 — A UCSC genome browser view of insertion. Upper panel shows MSH2 locus (NCBI reference sequence NM_000251.3), lower panel the MSH6 locus. Orange box and lines indicate extent of MSH6 sequence that is duplicated and insertion point in MSH2. Two 5ʹUTR non-coding exons from MSH6 transcript variant ENST00000652107.1 are thus inserted between exons 7 and 8 of MSH2. B Sanger sequences of breakpoints. The breakpoint in MSH2 sequence was determined to be chr2:47,432,457. The inserted sequence duplicated from MSH6 was chr2:47,682,947–47,721,794 (genomic positions from GRCh38 genome release). The right-hand breakpoint sequence is presented in the reverse complement of the database genomic sequence. The full variant is therefore annotated as NC_000002.12:g.47432456_47432457ins47682947_47721794.