Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42184463_42184466delinsGGAC , CM000679.2:g.42184463_42184466delinsGGAC | GRCh38 |
| NC_000017.10:g.40336481_40336484delinsGGAC , CM000679.1:g.40336481_40336484delinsGGAC | GRCh37 |
| NC_000017.9:g.37590007_37590010delinsGGAC | NCBI36 |
| NG_011448.1:g.5987_5990delinsGTCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293330.1:c.84_87delinsGTCC MANE Select | ENSP00000293330.1:p.Ser28= | |
| NM_001524.1:c.84_87delinsGTCC MANE Select | NP_001515.1:p.Ser28= |