Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.99221588del , CM000671.2:g.99221588del | GRCh38 |
| NC_000009.11:g.101983870del , CM000671.1:g.101983870del | GRCh37 |
| NC_000009.10:g.101023691del | NCBI36 |
| NG_008928.1:g.5378del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476832.2:c.308del MANE Select | ENSP00000417764.1:p.Phe103SerfsTer10 | |
| ENST00000238477.5:c.308del | ENSP00000432675.2:p.Phe103SerfsTer10 | |
| ENST00000476832.1:c.308del | ENSP00000417764.1:p.Phe103SerfsTer10 | |
| NM_033087.3:c.308del | NP_149078.1:p.Phe103SerfsTer10 | |
| NR_024532.1:n.378del | ||
| NM_033087.4:c.308del MANE Select | NP_149078.1:p.Phe103SerfsTer10 | |
| NR_024532.2:n.356del |