Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19954336_19954340delinsCAGAG , CM000670.2:g.19954336_19954340delinsCAGAG | GRCh38 |
| NC_000008.10:g.19811847_19811851delinsCAGAG , CM000670.1:g.19811847_19811851delinsCAGAG | GRCh37 |
| NC_000008.9:g.19856127_19856131delinsCAGAG | NCBI36 |
| NG_008855.1:g.20266_20270delinsCAGAG | |
| NG_008855.2:g.57620_57624delinsCAGAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.758_762delinsCAGAG MANE Select | ENSP00000497642.1:p.Ala253= | |
| ENST00000311322.8:c.758_762delinsCAGAG | ENSP00000309757.6:p.Ala253= | |
| NM_000237.2:c.758_762delinsCAGAG | NP_000228.1:p.Ala253= | |
| NM_000237.3:c.758_762delinsCAGAG MANE Select | NP_000228.1:p.Ala253= |