Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74754427_74754436delinsCAAAAAAAAA , CM000677.2:g.74754427_74754436delinsCAAAAAAAAA | GRCh38 |
| NC_000015.9:g.75046768_75046777delinsCAAAAAAAAA , CM000677.1:g.75046768_75046777delinsCAAAAAAAAA | GRCh37 |
| NC_000015.8:g.72833821_72833830delinsCAAAAAAAAA | NCBI36 |
| NG_008431.1:g.36886_36895delinsCAAAAAAAAA | |
| NG_008431.2:g.36886_36895delinsCAAAAAAAAA | |
| NG_061543.1:g.10583_10592delinsCAAAAAAAAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343932.5:c.1254-364_1254-355delinsCAAAAAAAAA MANE Select | ENSP00000342007.4:n.1254-364_1254-355delinsCAAAAAAAAA | |
| ENST00000343932.4:c.1254-364_1254-355delinsCAAAAAAAAA | ENSP00000342007.4:n.1254-364_1254-355delinsCAAAAAAAAA | |
| NM_000761.4:c.1254-364_1254-355delinsCAAAAAAAAA | NP_000752.2:n.1254-364_1254-355delinsCAAAAAAAAA | |
| NM_000761.5:c.1254-364_1254-355delinsCAAAAAAAAA MANE Select | NP_000752.2:n.1254-364_1254-355delinsCAAAAAAAAA |