Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10656408dup , CM000682.2:g.10656408dup | GRCh38 |
| NC_000020.10:g.10637056dup , CM000682.1:g.10637056dup | GRCh37 |
| NC_000020.9:g.10585056dup | NCBI36 |
| NG_007496.1:g.22640dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.746dup MANE Select | ENSP00000254958.4:p.Asp250Ter | |
| ENST00000254958.9:c.746dup | ENSP00000254958.4:p.Asp250Ter | |
| ENST00000423891.6:n.612dup | ||
| NM_000214.2:c.746dup | NP_000205.1:p.Asp250Ter | |
| NM_000214.3:c.746dup MANE Select | NP_000205.1:p.Asp250Ter |