Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013263_25013325dup , CM000685.2:g.25013263_25013325dup | GRCh38 |
| NC_000023.10:g.25031380_25031442dup , CM000685.1:g.25031380_25031442dup | GRCh37 |
| NC_000023.9:g.24941301_24941363dup | NCBI36 |
| NG_008281.1:g.7656_7718dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.702_764dup MANE Select | ENSP00000368332.4:p.Asp254_Asp255insGluGluAspGluAspGluGluGluG... | |
| ENST00000379044.4:c.702_764dup | ENSP00000368332.4:p.Asp254_Asp255insGluGluAspGluAspGluGluGluG... | |
| NM_139058.2:c.702_764dup | NP_620689.1:p.Asp254_Asp255insGluGluAspGluAspGluGluGluGluLeuL... | |
| NM_139058.3:c.702_764dup MANE Select | NP_620689.1:p.Asp254_Asp255insGluGluAspGluAspGluGluGluGluLeuL... |