Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41612634_41612635delinsCG , CM000679.2:g.41612634_41612635delinsCG | GRCh38 |
| NC_000017.10:g.39768886_39768887delinsCG , CM000679.1:g.39768886_39768887delinsCG | GRCh37 |
| NC_000017.9:g.37022412_37022413delinsCG | NCBI36 |
| NG_008301.1:g.5193_5194delinsCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301653.9:c.54_55delinsCG MANE Select | ENSP00000301653.3:p.Cys18= | |
| ENST00000301653.8:c.54_55delinsCG | ENSP00000301653.3:p.Cys18= | |
| ENST00000588319.1:n.131_132delinsCG | ||
| ENST00000590990.1:c.54_55delinsCG | ENSP00000467105.1:p.Cys18= | |
| ENST00000593067.1:c.-313+155_-313+156delinsCG | ENSP00000467124.1:n.-313+155_-313+156delinsCG | |
| NM_005557.3:c.54_55delinsCG | NP_005548.2:p.Cys18= | |
| NM_005557.4:c.54_55delinsCG MANE Select | NP_005548.2:p.Cys18= |