Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27924456_27924459delinsAAGG , CM000675.2:g.27924456_27924459delinsAAGG | GRCh38 |
| NC_000013.10:g.28498593_28498596delinsAAGG , CM000675.1:g.28498593_28498596delinsAAGG | GRCh37 |
| NC_000013.9:g.27396593_27396596delinsAAGG | NCBI36 |
| NG_008183.1:g.9426_9429delinsAAGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381033.5:c.607_610delinsAAGG MANE Select | ENSP00000370421.4:p.Lys203= | |
| ENST00000381033.4:c.607_610delinsAAGG | ENSP00000370421.4:p.Lys203= | |
| NM_000209.3:c.607_610delinsAAGG | NP_000200.1:p.Lys203= | |
| NM_000209.4:c.607_610delinsAAGG MANE Select | NP_000200.1:p.Lys203= |