Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73322598_73322601del , CM000677.2:g.73322598_73322601del | GRCh38 |
| NC_000015.9:g.73614939_73614942del , CM000677.1:g.73614939_73614942del | GRCh37 |
| NC_000015.8:g.71401992_71401995del | NCBI36 |
| NG_009063.1:g.51667_51670del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.3495_3498del MANE Select | ENSP00000261917.3:p.Ser1166CysfsTer14 | |
| ENST00000261917.3:c.3495_3498del | ENSP00000261917.3:p.Ser1166CysfsTer14 | |
| NM_005477.2:c.3495_3498del | NP_005468.1:p.Ser1166CysfsTer14 | |
| XM_011521148.1:c.2277_2280del | XP_011519450.1:p.Ser760CysfsTer14 | |
| XM_011521148.2:c.2277_2280del | XP_011519450.1:p.Ser760CysfsTer14 | |
| NM_005477.3:c.3495_3498del MANE Select | NP_005468.1:p.Ser1166CysfsTer14 |