Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90501199_90501203dup , CM000677.2:g.90501199_90501203dup | GRCh38 |
| NC_000015.9:g.91044431_91044435dup , CM000677.1:g.91044431_91044435dup | GRCh37 |
| NC_000015.8:g.88845435_88845439dup | NCBI36 |
| NG_052946.1:g.117959_117963dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268182.10:c.*1091_*1095dup MANE Select | ENSP00000268182.5:n.*1091_*1095dup | |
| ENST00000268182.9:c.*1091_*1095dup | ENSP00000268182.5:n.*1091_*1095dup | |
| ENST00000558957.1:n.2123_2127dup | ||
| ENST00000561086.1:n.1832_1836dup | ||
| NM_003870.3:c.*1091_*1095dup | NP_003861.1:n.*1091_*1095dup | |
| XR_001751409.2:n.6194_6198dup | ||
| NM_003870.4:c.*1091_*1095dup MANE Select | NP_003861.1:n.*1091_*1095dup |