Fig. 1

Example of an indel with alternative representations. The variant is a ‘GGG’ insertion that overlaps the 5′ boundary of BRCA2 exon 11. This would be annotated as an inframe glycine duplication in the most 3′ representation, as is standard for clinical annotations, but as an intronic insertion with no impact on coding sequence if left aligned, as is typical for most NGS annotation tools