Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153736464dup , CM000685.2:g.153736464dup | GRCh38 |
| NC_000023.10:g.153001918dup , CM000685.1:g.153001918dup | GRCh37 |
| NC_000023.9:g.152655112dup | NCBI36 |
| NG_009022.2:g.16597dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1344dup MANE Select | ENSP00000218104.3:p.Thr449AspfsTer? | |
| ENST00000218104.5:c.1344dup | ENSP00000218104.3:p.Thr449AspfsTer? | |
| ENST00000443684.2:n.347dup | ||
| NM_000033.3:c.1344dup | NP_000024.2:p.Thr449AspfsTer? | |
| XR_938507.1:n.1760dup | ||
| XR_938507.2:n.1760dup | ||
| NM_000033.4:c.1344dup MANE Select | NP_000024.2:p.Thr449AspfsTer? |