Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583343_41583348delinsCAGCGG , CM000679.2:g.41583343_41583348delinsCAGCGG | GRCh38 |
| NC_000017.10:g.39739595_39739600delinsCAGCGG , CM000679.1:g.39739595_39739600delinsCAGCGG | GRCh37 |
| NC_000017.9:g.36993121_36993126delinsCAGCGG | NCBI36 |
| NG_008624.1:g.8548_8553delinsCCGCTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.1161_1166delinsCCGCTG MANE Select | ENSP00000167586.6:p.Leu387= | |
| ENST00000167586.6:c.1161_1166delinsCCGCTG | ENSP00000167586.6:p.Leu387= | |
| ENST00000441550.2:n.108_113delinsCCGCTG | ||
| ENST00000476662.1:n.611_616delinsCCGCTG | ||
| NM_000526.4:c.1161_1166delinsCCGCTG | NP_000517.2:p.Leu387= | |
| NM_000526.5:c.1161_1166delinsCCGCTG MANE Select | NP_000517.3:p.Leu387= |