Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52516667dup , CM000674.2:g.52516667dup | GRCh38 |
| NC_000012.11:g.52910451dup , CM000674.1:g.52910451dup | GRCh37 |
| NC_000012.10:g.51196718dup | NCBI36 |
| NG_008297.1:g.8793dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000424.4:c.1409dup MANE Select | NP_000415.2:p.Tyr470Ter |
| ENST00000252242.9:c.1409dup MANE Select | ENSP00000252242.4:p.Tyr470Ter |
| NM_000424.3:c.1409dup | NP_000415.2:p.Tyr470Ter |
| ENST00000252242.8:c.1409dup | ENSP00000252242.4:p.Tyr470Ter |
| ENST00000548409.5:c.531dup | |
| ENST00000549511.5:n.616dup | |
| ENST00000552629.5:n.1507dup |