Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122461950dup , CM000672.2:g.122461950dup | GRCh38 |
| NC_000010.10:g.124221466dup , CM000672.1:g.124221466dup | GRCh37 |
| NC_000010.9:g.124211456dup | NCBI36 |
| NG_011554.1:g.5426dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.298dup MANE Select | ENSP00000357980.3:p.Thr100AsnfsTer? | |
| ENST00000648167.1:c.154+3241dup | ENSP00000498033.1:n.154+3241dup | |
| ENST00000368984.7:c.298dup | ENSP00000357980.3:p.Thr100AsnfsTer? | |
| NM_002775.4:c.298dup | NP_002766.1:p.Thr100AsnfsTer? | |
| NM_002775.5:c.298dup MANE Select | NP_002766.1:p.Thr100AsnfsTer? |