Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90501206_90501239del , CM000677.2:g.90501206_90501239del | GRCh38 |
| NC_000015.9:g.91044438_91044471del , CM000677.1:g.91044438_91044471del | GRCh37 |
| NC_000015.8:g.88845442_88845475del | NCBI36 |
| NG_052946.1:g.117966_117999del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268182.10:c.*1098_*1131del MANE Select | ENSP00000268182.5:n.*1098_*1131del | |
| ENST00000268182.9:c.*1098_*1131del | ENSP00000268182.5:n.*1098_*1131del | |
| ENST00000558957.1:n.2130_2163del | ||
| ENST00000561086.1:n.1839_1872del | ||
| NM_003870.3:c.*1098_*1131del | NP_003861.1:n.*1098_*1131del | |
| XR_001751409.2:n.6201_6234del | ||
| NM_003870.4:c.*1098_*1131del MANE Select | NP_003861.1:n.*1098_*1131del |