Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.92637444del , CM000672.2:g.92637444del | GRCh38 |
| NC_000010.10:g.94397201del , CM000672.1:g.94397201del | GRCh37 |
| NC_000010.9:g.94387181del | NCBI36 |
| NG_032580.1:g.49377del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260731.5:c.2059del MANE Select | ENSP00000260731.3:p.His687MetfsTer21 | |
| ENST00000676621.1:c.*577del | ENSP00000503639.1:n.*577del | |
| ENST00000676647.1:c.1852del | ENSP00000503394.1:p.His618MetfsTer21 | |
| ENST00000676757.1:c.1852del | ENSP00000504289.1:p.His618MetfsTer21 | |
| ENST00000677720.1:c.*33del | ENSP00000504840.1:n.*33del | |
| ENST00000260731.4:c.2059del | ENSP00000260731.3:p.His687MetfsTer21 | |
| NM_004523.3:c.2059del | NP_004514.2:p.His687MetfsTer21 | |
| NM_004523.4:c.2059del MANE Select | NP_004514.2:p.His687MetfsTer21 |