Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6632969del , CM000673.2:g.6632969del | GRCh38 |
| NC_000011.9:g.6654200del , CM000673.1:g.6654200del | GRCh37 |
| NC_000011.8:g.6610776del | NCBI36 |
| NG_033858.1:g.27881del | |
| NG_033858.2:g.27881del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299441.5:c.2543del MANE Select | ENSP00000299441.3:p.Thr848AsnfsTer30 | |
| ENST00000299441.4:c.2543del | ENSP00000299441.3:p.Thr848AsnfsTer30 | |
| NM_003737.3:c.2543del | NP_003728.1:p.Thr848AsnfsTer30 | |
| NM_003737.4:c.2543del MANE Select | NP_003728.1:p.Thr848AsnfsTer30 |