Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114713748_114713751del , CM000663.2:g.114713748_114713751del | GRCh38 |
| NC_000001.10:g.115256369_115256372del , CM000663.1:g.115256369_115256372del | GRCh37 |
| NC_000001.9:g.115057892_115057895del | NCBI36 |
| NG_007572.1:g.8145_8148del , LRG_92:g.8145_8148del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369535.5:c.290+50_290+53del MANE Select | ENSP00000358548.4:n.290+50_290+53del | |
| ENST00000369535.4:c.290+50_290+53del | ENSP00000358548.4:n.290+50_290+53del | |
| NM_002524.4:c.290+50_290+53del | NP_002515.1:n.290+50_290+53del | |
| NM_002524.5:c.290+50_290+53del MANE Select | NP_002515.1:n.290+50_290+53del |