Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31270018_31270021del , CM000668.2:g.31270018_31270021del | GRCh38 |
| NC_000006.11:g.31237795_31237798del , CM000668.1:g.31237795_31237798del | GRCh37 |
| NC_000006.10:g.31345774_31345777del | NCBI36 |
| NG_029422.2:g.7111_7114del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.960_963del MANE Select | ENSP00000365402.5:p.Ala322SerfsTer9 | |
| ENST00000376228.9:c.960_963del | ENSP00000365402.5:p.Ala322SerfsTer9 | |
| ENST00000376237.8:c.*547_*550del | ENSP00000365412.4:n.*547_*550del | |
| ENST00000383329.7:c.960_963del | ENSP00000372819.3:p.Ala322SerfsTer9 | |
| ENST00000470363.5:n.278_281del | ||
| ENST00000487245.5:n.1319_1322del | ||
| NM_002117.5:c.960_963del | NP_002108.4:p.Ala322SerfsTer9 | |
| NM_002117.6:c.960_963del MANE Select | NP_002108.4:p.Ala322SerfsTer9 |