Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94762803_94762804insTA , CM000672.2:g.94762803_94762804insTA | GRCh38 |
| NG_008384.2:g.5098_5099insTA | |
| NG_008384.3:g.5123_5124insTA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.98_99insTA MANE Select | ENSP00000360372.3:p.Pro35LeufsTer5 | |
| ENST00000371321.7:c.98_99insTA | ENSP00000360372.3:p.Pro35LeufsTer5 | |
| ENST00000464755.1:c.932-12255_932-12254insTA | ENSP00000483243.1:n.932-12255_932-12254insTA | |
| ENST00000480405.2:c.98_99insTA | ENSP00000483847.1:p.Pro35LeufsTer5 | |
| NM_000769.2:c.98_99insTA | NP_000760.1:p.Pro35LeufsTer5 | |
| NM_000769.4:c.98_99insTA MANE Select | NP_000760.1:p.Pro35LeufsTer5 |