Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31270009_31270010dup , CM000668.2:g.31270009_31270010dup | GRCh38 |
| NC_000006.11:g.31237786_31237787dup , CM000668.1:g.31237786_31237787dup | GRCh37 |
| NC_000006.10:g.31345765_31345766dup | NCBI36 |
| NG_029422.2:g.7122_7123dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.971_972dup MANE Select | ENSP00000365402.5:p.Gly325LeufsTer8 | |
| ENST00000376228.9:c.971_972dup | ENSP00000365402.5:p.Gly325LeufsTer8 | |
| ENST00000376237.8:c.*558_*559dup | ENSP00000365412.4:n.*558_*559dup | |
| ENST00000383329.7:c.971_972dup | ENSP00000372819.3:p.Gly325LeufsTer8 | |
| ENST00000470363.5:n.289_290dup | ||
| ENST00000487245.5:n.1330_1331dup | ||
| NM_002117.5:c.971_972dup | NP_002108.4:p.Gly325LeufsTer8 | |
| NM_002117.6:c.971_972dup MANE Select | NP_002108.4:p.Gly325LeufsTer8 |