2bp insertion in pyd exon 12 that introduces a frameshift and a premature stop codon that effects isoform pyd-PB and predicted isoforms pyd-PO, pyd-PF, pyd-PI and pyd-PJ.
The insertion of 2 bases (GA) between the indicated bases that affects pyd-PB, pyd-PF, pyd-PI, pyd-PJ, and pyd-PO. The deletion causes a frameshift and early translation termination.