Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1984243del , CM000678.2:g.1984243del | GRCh38 |
| NC_000016.9:g.2034244del , CM000678.1:g.2034244del | GRCh37 |
| NC_000016.8:g.1974245del | NCBI36 |
| NG_016288.1:g.5095del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248114.7:c.25del MANE Select | ENSP00000248114.6:p.Arg9AlafsTer18 | |
| ENST00000248114.6:c.25del | ENSP00000248114.6:p.Arg9AlafsTer18 | |
| ENST00000569451.1:c.25del | ENSP00000456432.1:p.Arg9AlafsTer18 | |
| NM_005262.2:c.25del | NP_005253.3:p.Arg9AlafsTer18 | |
| NM_005262.3:c.25del MANE Select | NP_005253.3:p.Arg9AlafsTer18 |