Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.13885073_13885074insGATGA , CM000680.2:g.13885073_13885074insGATGA | GRCh38 |
| NC_000018.9:g.13885072_13885073insGATGA , CM000680.1:g.13885072_13885073insGATGA | GRCh37 |
| NC_000018.8:g.13875072_13875073insGATGA | NCBI36 |
| NG_011819.1:g.35464_35465insCATCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327606.4:c.446_447insCATCT MANE Select | ENSP00000333821.2:p.Val150IlefsTer19 | |
| ENST00000327606.3:c.446_447insCATCT | ENSP00000333821.2:p.Val150IlefsTer19 | |
| NM_000529.2:c.446_447insCATCT MANE Select | NP_000520.1:p.Val150IlefsTer19 | |
| NM_001291911.1:c.446_447insCATCT | NP_001278840.1:p.Val150IlefsTer19 | |
| XM_017025781.1:c.446_447insCATCT | XP_016881270.1:p.Val150IlefsTer19 |