Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.47325376_47325377insACTG , CM000672.2:g.47325376_47325377insACTG | GRCh38 |
| NC_000010.10:g.48413986_48413987insAGTC , CM000672.1:g.48413986_48413987insAGTC | GRCh37 |
| NC_000010.9:g.48033992_48033993insAGTC | NCBI36 |
| NG_033916.1:g.7887_7888insACTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000581492.3:c.882_883insACTG MANE Select | ENSP00000463051.1:p.Ala295ThrfsTer4 | |
| ENST00000581492.2:c.882_883insACTG | ENSP00000463051.1:p.Ala295ThrfsTer4 | |
| NM_016204.2:c.882_883insACTG | NP_057288.1:p.Ala295ThrfsTer4 | |
| XM_006717761.2:c.882_883insACTG | XP_006717824.1:p.Ala295ThrfsTer4 | |
| NM_016204.3:c.882_883insACTG | NP_057288.1:p.Ala295ThrfsTer4 | |
| NM_016204.4:c.882_883insACTG MANE Select | NP_057288.1:p.Ala295ThrfsTer4 |