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. 2020 Dec 21;59(2):155–164. doi: 10.1136/jmedgenet-2020-107401

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© Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.

This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/.

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Overview of CDKN1C transcripts according to ENSEMBL GRCh38.p11, and corresponding protein isoform A. Above, the localisation of the patient’s delins variant (purple and open vertical box) and reported IMAGe and Beckwith-Wiedemann syndrome (BWS) mutations. The transcripts are not drawn to scale. The narrow bars represent untranslated regions (UTRs). To the left, ENSEMBL reference transcripts, to the right protein isoforms (NCBI protein reference sequences if known). Below, isoform A (316 aa, NP_000067.1) with amino acid borders, domains, motifs, repeats and their approximate localisation. The protein isoform A of 316 aa is encoded by two different transcripts (CDKN1C-202 and CDKN1C-203) with different lengths of UTRs but encoding identical amino acids. Isoform B (305 aa) uses an alternative start methionine, 11 aa downstream. A6NK88 is the UniProtKB accession code for the 131 aa protein isoform that we call isoform D. CDKN1C-206 (encoding isoform C) is not included in this figure as this transcript was not detected in our analysis.