Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114709488_114709489del , CM000663.2:g.114709488_114709489del | GRCh38 |
| NC_000001.10:g.115252109_115252110del , CM000663.1:g.115252109_115252110del | GRCh37 |
| NC_000001.9:g.115053632_115053633del | NCBI36 |
| NG_007572.1:g.12406_12407del , LRG_92:g.12406_12407del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369535.5:c.450+80_450+81del MANE Select | ENSP00000358548.4:n.450+80_450+81del | |
| ENST00000369535.4:c.450+80_450+81del | ENSP00000358548.4:n.450+80_450+81del | |
| NM_002524.4:c.450+80_450+81del | NP_002515.1:n.450+80_450+81del | |
| NM_002524.5:c.450+80_450+81del MANE Select | NP_002515.1:n.450+80_450+81del |