Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73322619_73322622delinsTGAG , CM000677.2:g.73322619_73322622delinsTGAG | GRCh38 |
| NC_000015.9:g.73614960_73614963delinsTGAG , CM000677.1:g.73614960_73614963delinsTGAG | GRCh37 |
| NC_000015.8:g.71402013_71402016delinsTGAG | NCBI36 |
| NG_009063.1:g.51643_51646delinsCTCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.3471_3474delinsCTCA MANE Select | ENSP00000261917.3:p.Ser1157= | |
| ENST00000261917.3:c.3471_3474delinsCTCA | ENSP00000261917.3:p.Ser1157= | |
| NM_005477.2:c.3471_3474delinsCTCA | NP_005468.1:p.Ser1157= | |
| XM_011521148.1:c.2253_2256delinsCTCA | XP_011519450.1:p.Ser751= | |
| XM_011521148.2:c.2253_2256delinsCTCA | XP_011519450.1:p.Ser751= | |
| NM_005477.3:c.3471_3474delinsCTCA MANE Select | NP_005468.1:p.Ser1157= |