Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148827374_148827383del , CM000667.2:g.148827374_148827383del | GRCh38 |
| NC_000005.9:g.148206937_148206946del , CM000667.1:g.148206937_148206946del | GRCh37 |
| NC_000005.8:g.148187130_148187139del | NCBI36 |
| NG_016421.1:g.5782_5791del | |
| NG_016421.2:g.5782_5791del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305988.6:c.543_552del MANE Select | ENSP00000305372.4:p.Ile182MetfsTer29 | |
| ENST00000305988.5:c.543_552del | ENSP00000305372.4:p.Ile182MetfsTer29 | |
| NM_000024.5:c.543_552del | NP_000015.1:p.Ile182MetfsTer29 | |
| NM_000024.6:c.543_552del MANE Select | NP_000015.2:p.Ile182MetfsTer29 |