Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.12695516_12695551del , CM000671.2:g.12695516_12695551del | GRCh38 |
| NC_000009.11:g.12695516_12695551del , CM000671.1:g.12695516_12695551del | GRCh37 |
| NC_000009.10:g.12685516_12685551del | NCBI36 |
| NG_011705.1:g.7131_7166del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388918.10:c.387_422del MANE Select | ENSP00000373570.4:p.Arg130_Lys141del | |
| ENST00000388918.9:c.387_422del | ENSP00000373570.4:p.Arg130_Lys141del | |
| NM_000550.2:c.387_422del | NP_000541.1:p.Arg130_Lys141del | |
| XR_001746372.2:n.576_611del | ||
| NM_000550.3:c.387_422del MANE Select | NP_000541.1:p.Arg130_Lys141del |