Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7454322dup , CM000679.2:g.7454322dup | GRCh38 |
| NC_000017.10:g.7357641dup , CM000679.1:g.7357641dup | GRCh37 |
| NC_000017.9:g.7298365dup | NCBI36 |
| NG_008026.1:g.14236dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306071.7:c.846dup MANE Select | ENSP00000304290.2:p.Ala283CysfsTer14 | |
| ENST00000306071.6:c.846dup | ENSP00000304290.2:p.Ala283CysfsTer14 | |
| ENST00000536404.6:c.630dup | ENSP00000439209.2:p.Ala211CysfsTer14 | |
| ENST00000570557.5:c.509dup | ||
| ENST00000573209.1:n.1790dup | ||
| ENST00000576360.1:c.605-122dup | ENSP00000459092.1:n.605-122dup | |
| NM_000747.2:c.846dup | NP_000738.2:p.Ala283CysfsTer14 | |
| NM_000747.3:c.846dup MANE Select | NP_000738.2:p.Ala283CysfsTer14 |