| Gene Symbol | Transcript Accession | Exon Location | Assay Location | Protein ID |
|---|---|---|---|---|
| PEX1 | NM_000466.2 | 5 | 770 | NP_000457.1 |
| NM_001282677.1 | 5 | 770 | NP_001269606.1 | |
| NM_001282678.1 | 5 | 805 | NP_001269607.1 | |
| AB008112.1 | 5 | 741 | BAA85162.1 | |
| AB052090.1 | 5 | 674 | BAB59061.1 | |
| AB052091.1 | 5 | 674 | BAB59062.1 | |
| AB052092.1 | 5 | 674 | BAB59063.1 | |
| AB052093.1 | 5 | 674 | BAB59064.1 | |
| AB052094.1 | 5 | 674 | BAB59065.1 | |
| AF026086.1 | 5 | 734 | AAB87880.1 | |
| AF030356.1 | 5 | 678 | AAB99758.1 | |
| AK292955.1 | 5 | 675 | ||
| AK293757.1 | 5 | 713 | ||
| AK295686.1 | ||||
| BC035575.1 | 5 | 712 | AAH35575.1 | |
| DC370317.1 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| esv2657169 | Chr7:92517344 - 92518793 on Build GRCh38 | Deletion |
 PEX1
|
| esv3614141 | Chr7:92517321 - 92518849 on Build GRCh38 | Loss |
PEX1
|