Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48411064dup , CM000677.2:g.48411064dup | GRCh38 |
| NC_000015.9:g.48703261dup , CM000677.1:g.48703261dup | GRCh37 |
| NC_000015.8:g.46490553dup | NCBI36 |
| NG_008805.2:g.239727dup , LRG_778:g.239727dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1352dup | ENSP00000453958.2:n.*1352dup | |
| ENST00000682158.1:n.1925dup | ||
| ENST00000682170.1:n.2725dup | ||
| ENST00000682767.1:n.1841dup | ||
| ENST00000316623.10:c.8544dup MANE Select | ENSP00000325527.5:p.Tyr2849IlefsTer2 | |
| ENST00000316623.9:c.8544dup | ENSP00000325527.5:p.Tyr2849IlefsTer2 | |
| ENST00000559133.5:c.3913dup | ||
| NM_000138.4:c.8544dup , LRG_778t1:c.8544dup | NP_000129.3:p.Tyr2849IlefsTer2 | |
| NM_000138.5:c.8544dup MANE Select | NP_000129.3:p.Tyr2849IlefsTer2 |