Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94780496del , CM000672.2:g.94780496del | GRCh38 |
| NC_000010.10:g.96540253del , CM000672.1:g.96540253del | GRCh37 |
| NC_000010.9:g.96530243del | NCBI36 |
| NG_008384.2:g.22791del | |
| NG_008384.3:g.22816del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.482-3del MANE Select | ENSP00000360372.3:n.482-3del | |
| ENST00000645461.1:n.1535-3del | ||
| ENST00000371321.7:c.482-3del | ENSP00000360372.3:n.482-3del | |
| ENST00000464755.1:c.1245-3del | ENSP00000483243.1:n.1245-3del | |
| NM_000769.2:c.482-3del | NP_000760.1:n.482-3del | |
| NM_000769.4:c.482-3del MANE Select | NP_000760.1:n.482-3del |