Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63944552_63944563delinsGAACCAACAACC , CM000679.2:g.63944552_63944563delinsGAACCAACAACC | GRCh38 |
| NC_000017.10:g.62021912_62021923delinsGAACCAACAACC , CM000679.1:g.62021912_62021923delinsGAACCAACAACC | GRCh37 |
| NC_000017.9:g.59375644_59375655delinsGAACCAACAACC | NCBI36 |
| NG_011699.1:g.33356_33367delinsGGTTGTTGGTTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.3912+110_3912+121delinsGGTTGTTGGTTC MANE Select | ENSP00000396320.1:n.3912+110_3912+121delinsGGTTGTTGGTTC | |
| ENST00000578147.5:c.3916+106_3916+117delinsGGTTGTTGGTTC | ENSP00000463963.1:n.3916+106_3916+117delinsGGTTGTTGGTTC | |
| NM_000334.4:c.3912+110_3912+121delinsGGTTGTTGGTTC MANE Select | NP_000325.4:n.3912+110_3912+121delinsGGTTGTTGGTTC | |
| XM_005257566.3:c.3912+110_3912+121delinsGGTTGTTGGTTC | XP_005257623.1:n.3912+110_3912+121delinsGGTTGTTGGTTC |