Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177023del , CM000678.2:g.177023del | GRCh38 |
| NC_000016.9:g.227022del , CM000678.1:g.227022del | GRCh37 |
| NC_000016.8:g.167022del | NCBI36 |
| NG_000006.1:g.37886del | |
| NG_059186.1:g.5373del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320868.9:c.190del MANE Select | ENSP00000322421.5:p.Ala64ProfsTer4 | |
| ENST00000397797.1:c.94del | ENSP00000380899.1:p.Ala32ProfsTer4 | |
| ENST00000472694.1:n.326del | ||
| ENST00000487791.1:n.159del | ||
| NM_000558.4:c.190del | NP_000549.1:p.Ala64ProfsTer4 | |
| NM_000558.5:c.190del MANE Select | NP_000549.1:p.Ala64ProfsTer4 |