Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153743054_153743061dup , CM000685.2:g.153743054_153743061dup | GRCh38 |
| NC_000023.10:g.153008508_153008515dup , CM000685.1:g.153008508_153008515dup | GRCh37 |
| NC_000023.9:g.152661702_152661709dup | NCBI36 |
| NG_009022.2:g.23187_23194dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1848_1855dup MANE Select | ENSP00000218104.3:p.Phe619SerfsTer20 | |
| ENST00000218104.5:c.1848_1855dup | ENSP00000218104.3:p.Phe619SerfsTer20 | |
| NM_000033.3:c.1848_1855dup | NP_000024.2:p.Phe619SerfsTer20 | |
| XR_938507.1:n.2320_2327dup | ||
| XR_938507.2:n.2320_2327dup | ||
| NM_000033.4:c.1848_1855dup MANE Select | NP_000024.2:p.Phe619SerfsTer20 |