Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4933875_4933877delinsCGG , CM000679.2:g.4933875_4933877delinsCGG | GRCh38 |
| NC_000017.10:g.4837170_4837172delinsCGG , CM000679.1:g.4837170_4837172delinsCGG | GRCh37 |
| NG_008767.2:g.6581_6583delinsCGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329125.6:c.1271_1273delinsCGG (GP1BA) MANE Select | ENSP00000329380.5:p.Pro424= | |
| ENST00000649830.1:c.-888+465_-888+467delinsCCG (CHRNE) | ENSP00000496907.1:n.-888+465_-888+467delinsCCG | |
| ENST00000329125.5:c.1271_1273delinsCGG (GP1BA) | ENSP00000329380.5:p.Pro424= | |
| ENST00000611961.1:c.1271_1272+1delinsCGG (GP1BA) | ||
| NM_000173.6:c.1271_1273delinsCGG (GP1BA) | NP_000164.5:p.Pro424= | |
| NM_000173.7:c.1271_1273delinsCGG (GP1BA) MANE Select | NP_000164.5:p.Pro424= |