Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154899869_154902170dup , CM000685.2:g.154899869_154902170dup | GRCh38 |
| NC_000023.10:g.154128144_154130445dup , CM000685.1:g.154128144_154130445dup | GRCh37 |
| NC_000023.9:g.153781338_153783639dup | NCBI36 |
| NG_011403.1:g.125559_127860dup | |
| NG_011403.2:g.125559_127860dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000132.3:c.6001_6273+2dup | |
| NM_000132.4:c.6001_6273+2dup | |
| ENST00000360256.8:c.6001_6273+2dup | |
| ENST00000360256.9:c.6001_6273+2dup | |
| XM_011531126.1:c.5896_6168+2dup |