Frameshift deletion of bases 4:188931 through 4:188940 (R6) resulting in addition of KSYWLHSSLKKKLQII after leucine 80 of all Abcd1 isoforms and premature protein truncation after these novel amino acids.
Deletion of bases 4:188931..188940 in Abcd1 results in a frameshift and early translation termination after the additon of 16 novel amino acids (KSYWLHSSLKKKLQII).