Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24301748del , CM000668.2:g.24301748del | GRCh38 |
| NC_000006.11:g.24301976del , CM000668.1:g.24301976del | GRCh37 |
| NC_000006.10:g.24409955del | NCBI36 |
| NG_012829.1:g.61310del | |
| NG_012829.2:g.86550del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378454.8:c.529del MANE Select | ENSP00000367715.3:p.Ile177SerfsTer3 | |
| ENST00000378454.7:c.529del | ENSP00000367715.3:p.Ile177SerfsTer3 | |
| NM_001195610.1:c.529del | NP_001182539.1:p.Ile177SerfsTer3 | |
| NM_016356.4:c.529del | NP_057440.2:p.Ile177SerfsTer3 | |
| NM_016356.5:c.529del MANE Select | NP_057440.2:p.Ile177SerfsTer3 | |
| NM_001195610.2:c.529del | NP_001182539.1:p.Ile177SerfsTer3 |