Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40472246dup , CM000677.2:g.40472246dup | GRCh38 |
| NC_000015.9:g.40764445dup , CM000677.1:g.40764445dup | GRCh37 |
| NC_000015.8:g.38551737dup | NCBI36 |
| NG_017074.1:g.6286dup , LRG_600:g.6286dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_130468.4:c.1033dup MANE Select | NP_569735.1:p.Arg345ProfsTer10 |
| ENST00000306243.7:c.1033dup MANE Select | ENSP00000307297.6:p.Arg345ProfsTer10 |
| NM_130468.3:c.1033dup , LRG_600t1:c.1033dup | NP_569735.1:p.Arg345ProfsTer10 |
| ENST00000306243.6:c.1033dup | ENSP00000307297.5:p.Arg345ProfsTer10 |
| ENST00000559991.1:c.958dup | ENSP00000453882.1:p.Arg320ProfsTer10 |