Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.17594243_17594247del , CM000672.2:g.17594243_17594247del | GRCh38 |
| NC_000010.10:g.17636242_17636246del , CM000672.1:g.17636242_17636246del | GRCh37 |
| NC_000010.9:g.17676248_17676252del | NCBI36 |
| NG_041789.1:g.28129_28133del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361271.8:c.743_747del MANE Select | ENSP00000355308.3:p.Tyr248LeufsTer? | |
| ENST00000361271.7:c.743_747del | ENSP00000355308.3:p.Tyr248LeufsTer? | |
| ENST00000471481.1:n.529_533del | ||
| ENST00000498812.5:c.246_250del | ENSP00000462868.1:n.246_250del | |
| NM_014241.3:c.743_747del | NP_055056.3:p.Tyr248LeufsTer? | |
| XM_005252641.3:c.635_639del | XP_005252698.1:p.Tyr212LeufsTer? | |
| XM_005252641.4:c.635_639del | XP_005252698.1:p.Tyr212LeufsTer? | |
| NM_014241.4:c.743_747del MANE Select | NP_055056.3:p.Tyr248LeufsTer? |