Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73323587_73323590delinsCAGA , CM000677.2:g.73323587_73323590delinsCAGA | GRCh38 |
| NC_000015.9:g.73615928_73615931delinsCAGA , CM000677.1:g.73615928_73615931delinsCAGA | GRCh37 |
| NC_000015.8:g.71402981_71402984delinsCAGA | NCBI36 |
| NG_009063.1:g.50675_50678delinsTCTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.2503_2506delinsTCTG MANE Select | ENSP00000261917.3:p.Ser835= | |
| ENST00000261917.3:c.2503_2506delinsTCTG | ENSP00000261917.3:p.Ser835= | |
| NM_005477.2:c.2503_2506delinsTCTG | NP_005468.1:p.Ser835= | |
| XM_011521148.1:c.1285_1288delinsTCTG | XP_011519450.1:p.Ser429= | |
| XM_011521148.2:c.1285_1288delinsTCTG | XP_011519450.1:p.Ser429= | |
| NM_005477.3:c.2503_2506delinsTCTG MANE Select | NP_005468.1:p.Ser835= |