Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57763706_57763712dup , CM000674.2:g.57763706_57763712dup | GRCh38 |
| NC_000012.11:g.58157489_58157495dup , CM000674.1:g.58157489_58157495dup | GRCh37 |
| NC_000012.10:g.56443756_56443762dup | NCBI36 |
| NG_007076.1:g.8489_8495dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000785.4:c.1319_1325dup MANE Select | NP_000776.1:p.Phe443ProfsTer24 |
| ENST00000228606.9:c.1319_1325dup MANE Select | ENSP00000228606.4:p.Phe443ProfsTer24 |
| NM_000785.3:c.1319_1325dup | NP_000776.1:p.Phe443ProfsTer24 |
| ENST00000228606.8:c.1319_1325dup | ENSP00000228606.4:p.Phe443ProfsTer24 |
| ENST00000547344.5:n.1458_1464dup | |
| ENST00000713544.1:c.1400_1406dup | ENSP00000518840.1:p.Phe470ProfsTer24 |
| ENST00000713545.1:c.*324_*330dup | ENSP00000518841.1:n.*324_*330dup |