Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73322480_73322482del , CM000677.2:g.73322480_73322482del | GRCh38 |
| NC_000015.9:g.73614821_73614823del , CM000677.1:g.73614821_73614823del | GRCh37 |
| NC_000015.8:g.71401874_71401876del | NCBI36 |
| NG_009063.1:g.51783_51785del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.3611_*1del MANE Select | ENSP00000261917.3:n.[c.3611_*1del;Ter1204SerextTer21] | |
| ENST00000261917.3:c.3611_*1del | ENSP00000261917.3:n.[c.3611_*1del;Ter1204SerextTer21] | |
| NM_005477.2:c.3611_*1del | NP_005468.1:n.[c.3611_*1del;Ter1204SerextTer21] | |
| XM_011521148.1:c.2393_*1del | XP_011519450.1:n.[c.2393_*1del;Ter798SerextTer21] | |
| XM_011521148.2:c.2393_*1del | XP_011519450.1:n.[c.2393_*1del;Ter798SerextTer21] | |
| NM_005477.3:c.3611_*1del MANE Select | NP_005468.1:n.[c.3611_*1del;Ter1204SerextTer21] |