Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18786080_18786083delinsGTCC , CM000681.2:g.18786080_18786083delinsGTCC | GRCh38 |
| NC_000019.9:g.18896890_18896893delinsGTCC , CM000681.1:g.18896890_18896893delinsGTCC | GRCh37 |
| NC_000019.8:g.18757890_18757893delinsGTCC | NCBI36 |
| NG_007070.1:g.10222_10225delinsGGAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1371_1374delinsGGAC MANE Select | ENSP00000222271.2:p.Glu457= | |
| ENST00000222271.6:c.1371_1374delinsGGAC | ENSP00000222271.2:p.Glu457= | |
| ENST00000425807.1:c.1212_1215delinsGGAC | ENSP00000403792.1:p.Glu404= | |
| ENST00000542601.6:c.1272_1275delinsGGAC | ENSP00000439156.2:p.Glu424= | |
| NM_000095.2:c.1371_1374delinsGGAC | NP_000086.2:p.Glu457= | |
| NM_000095.3:c.1371_1374delinsGGAC MANE Select | NP_000086.2:p.Glu457= |