Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.12695544_12695549delinsGAAGAA , CM000671.2:g.12695544_12695549delinsGAAGAA | GRCh38 |
| NC_000009.11:g.12695544_12695549delinsGAAGAA , CM000671.1:g.12695544_12695549delinsGAAGAA | GRCh37 |
| NC_000009.10:g.12685544_12685549delinsGAAGAA | NCBI36 |
| NG_011705.1:g.7159_7164delinsGAAGAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388918.10:c.415_420delinsGAAGAA MANE Select | ENSP00000373570.4:p.Glu139= | |
| ENST00000388918.9:c.415_420delinsGAAGAA | ENSP00000373570.4:p.Glu139= | |
| NM_000550.2:c.415_420delinsGAAGAA | NP_000541.1:p.Glu139= | |
| XR_001746372.2:n.604_609delinsGAAGAA | ||
| NM_000550.3:c.415_420delinsGAAGAA MANE Select | NP_000541.1:p.Glu139= |