Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583288_41583289del , CM000679.2:g.41583288_41583289del | GRCh38 |
| NC_000017.10:g.39739540_39739541del , CM000679.1:g.39739540_39739541del | GRCh37 |
| NC_000017.9:g.36993066_36993067del | NCBI36 |
| NG_008624.1:g.8607_8608del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.1220_1221del MANE Select | ENSP00000167586.6:p.Arg407ProfsTer? | |
| ENST00000167586.6:c.1220_1221del | ENSP00000167586.6:p.Arg407ProfsTer? | |
| ENST00000441550.2:n.167_168del | ||
| ENST00000476662.1:n.670_671del | ||
| NM_000526.4:c.1220_1221del | NP_000517.2:p.Arg407ProfsTer? | |
| NM_000526.5:c.1220_1221del MANE Select | NP_000517.3:p.Arg407ProfsTer? |