Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41586621dup , CM000679.2:g.41586621dup | GRCh38 |
| NC_000017.10:g.39742873dup , CM000679.1:g.39742873dup | GRCh37 |
| NC_000017.9:g.36996399dup | NCBI36 |
| NG_008624.1:g.5276dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.215dup MANE Select | ENSP00000167586.6:p.Phe73LeufsTer10 | |
| ENST00000167586.6:c.215dup | ENSP00000167586.6:p.Phe73LeufsTer10 | |
| NM_000526.4:c.215dup | NP_000517.2:p.Phe73LeufsTer10 | |
| NM_000526.5:c.215dup MANE Select | NP_000517.3:p.Phe73LeufsTer10 |