Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42184462_42184463delinsCG , CM000679.2:g.42184462_42184463delinsCG | GRCh38 |
| NC_000017.10:g.40336480_40336481delinsCG , CM000679.1:g.40336480_40336481delinsCG | GRCh37 |
| NC_000017.9:g.37590006_37590007delinsCG | NCBI36 |
| NG_011448.1:g.5990_5991delinsCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293330.1:c.87_88delinsCG MANE Select | ENSP00000293330.1:p.Ser29= | |
| NM_001524.1:c.87_88delinsCG MANE Select | NP_001515.1:p.Ser29= |