Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.147831551del , CM000667.2:g.147831551del | GRCh38 |
| NC_000005.9:g.147211114del , CM000667.1:g.147211114del | GRCh37 |
| NC_000005.8:g.147191307del | NCBI36 |
| NG_008356.2:g.12681del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001379610.1:c.27del MANE Select | NP_001366539.1:p.Ser10ValfsTer6 |
| ENST00000296695.10:c.27del MANE Select | ENSP00000296695.5:p.Ser10ValfsTer6 |
| NM_001354966.1:c.27del | NP_001341895.1:p.Ser10ValfsTer6 |
| NM_001354966.2:c.27del | NP_001341895.1:p.Ser10ValfsTer6 |
| NM_003122.4:c.27del | NP_003113.2:p.Ser10ValfsTer6 |
| NM_003122.5:c.27del | NP_003113.2:p.Ser10ValfsTer6 |
| ENST00000296695.9:c.27del | ENSP00000296695.5:p.Ser10ValfsTer6 |
| ENST00000510027.2:c.27del | ENSP00000427376.1:p.Ser10ValfsTer6 |