Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583308_41583309insCACGC , CM000679.2:g.41583308_41583309insCACGC | GRCh38 |
| NC_000017.10:g.39739560_39739561insCACGC , CM000679.1:g.39739560_39739561insCACGC | GRCh37 |
| NC_000017.9:g.36993086_36993087insCACGC | NCBI36 |
| NG_008624.1:g.8587_8588insGCGTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.1200_1201insGCGTG MANE Select | ENSP00000167586.6:p.Leu401AlafsTer6 | |
| ENST00000167586.6:c.1200_1201insGCGTG | ENSP00000167586.6:p.Leu401AlafsTer6 | |
| ENST00000441550.2:n.147_148insGCGTG | ||
| ENST00000476662.1:n.650_651insGCGTG | ||
| NM_000526.4:c.1200_1201insGCGTG | NP_000517.2:p.Leu401AlafsTer6 | |
| NM_000526.5:c.1200_1201insGCGTG MANE Select | NP_000517.3:p.Leu401AlafsTer6 |