Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44311114dup , CM000682.2:g.44311114dup | GRCh38 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001080472.4:c.39dup MANE Select | NP_001073941.1:p.Thr14AspfsTer? |
| ENST00000396825.4:c.39dup MANE Select | ENSP00000380037.3:p.Thr14AspfsTer? |
| NM_001080472.2:c.39dup | NP_001073941.1:p.Thr14AspfsTer? |
| NM_001080472.3:c.39dup | NP_001073941.1:p.Thr14AspfsTer? |
| ENST00000396825.3:c.39dup | ENSP00000380037.3:p.Thr14AspfsTer? |