Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74752148_74752152del , CM000677.2:g.74752148_74752152del | GRCh38 |
| NC_000015.9:g.75044489_75044493del , CM000677.1:g.75044489_75044493del | GRCh37 |
| NC_000015.8:g.72831542_72831546del | NCBI36 |
| NG_008431.1:g.34607_34611del | |
| NG_008431.2:g.34607_34611del | |
| NG_061543.1:g.8304_8308del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343932.5:c.1067_1071del MANE Select | ENSP00000342007.4:p.Arg356ProfsTer4 | |
| ENST00000343932.4:c.1067_1071del | ENSP00000342007.4:p.Arg356ProfsTer4 | |
| NM_000761.4:c.1067_1071del | NP_000752.2:p.Arg356ProfsTer4 | |
| NM_000761.5:c.1067_1071del MANE Select | NP_000752.2:p.Arg356ProfsTer4 |