Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4933876_4933878delinsGGA , CM000679.2:g.4933876_4933878delinsGGA | GRCh38 |
| NC_000017.10:g.4837171_4837173delinsGGA , CM000679.1:g.4837171_4837173delinsGGA | GRCh37 |
| NG_008767.2:g.6582_6584delinsGGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329125.6:c.1272_1274delinsGGA (GP1BA) MANE Select | ENSP00000329380.5:p.Pro424= | |
| ENST00000649830.1:c.-888+464_-888+466delinsTCC (CHRNE) | ENSP00000496907.1:n.-888+464_-888+466delinsTCC | |
| ENST00000329125.5:c.1272_1274delinsGGA (GP1BA) | ENSP00000329380.5:p.Pro424= | |
| ENST00000611961.1:c.1272_1272+2delinsGGA (GP1BA) | ||
| NM_000173.6:c.1272_1274delinsGGA (GP1BA) | NP_000164.5:p.Pro424= | |
| NM_000173.7:c.1272_1274delinsGGA (GP1BA) MANE Select | NP_000164.5:p.Pro424= |