| Gene Symbol | Transcript Accession | Exon Location | Assay Location | Protein ID |
|---|---|---|---|---|
| HEXA | NM_000520.5 | NP_000511.2 | ||
| NM_001318825.1 | NP_001305754.1 | |||
| NR_134869.1 | ||||
| AK222502.1 | BAD96222.1 | |||
| AK296528.1 | ||||
| AK297678.1 | ||||
| AK301000.1 | ||||
| AK301138.1 | ||||
| AK307770.1 | ||||
| AK310154.1 | ||||
| BC001138.2 | AAH01138.2 | |||
| BC018927.2 | AAH18927.1 | |||
| BC021030.1 | AAH21030.1 | |||
| BC084537.1 | AAH84537.1 | |||
| BX537989.1 | ||||
| CR627386.1 | CAH10482.1 | |||
| KU178109.1 | ||||
| KU178110.1 | ||||
| KU178111.1 | ||||
| KU178112.1 | ||||
| KU178113.1 | ||||
| M13520.1 | AAA51827.1 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| esv2603997 | Chr15:72346839 - 72347855 on Build GRCh38 | Insertion |
 HEXA
|