Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10658487dup , CM000682.2:g.10658487dup | GRCh38 |
| NC_000020.10:g.10639135dup , CM000682.1:g.10639135dup | GRCh37 |
| NC_000020.9:g.10587135dup | NCBI36 |
| NG_007496.1:g.20562dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.677dup MANE Select | ENSP00000254958.4:p.Glu228ArgfsTer3 | |
| ENST00000254958.9:c.677dup | ENSP00000254958.4:p.Glu228ArgfsTer3 | |
| ENST00000423891.6:n.543dup | ||
| NM_000214.2:c.677dup | NP_000205.1:p.Glu228ArgfsTer3 | |
| NM_000214.3:c.677dup MANE Select | NP_000205.1:p.Glu228ArgfsTer3 |