Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48508700del , CM000677.2:g.48508700del | GRCh38 |
| NC_000015.9:g.48800897del , CM000677.1:g.48800897del | GRCh37 |
| NC_000015.8:g.46588189del | NCBI36 |
| NG_008805.2:g.142090del , LRG_778:g.142090del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.1720del | ENSP00000453958.2:p.Asp574MetfsTer5 | |
| ENST00000674301.2:c.1720del | ENSP00000501333.2:p.Asp574MetfsTer5 | |
| ENST00000684448.1:n.394del | ||
| ENST00000316623.10:c.1720del MANE Select | ENSP00000325527.5:p.Asp574MetfsTer5 | |
| ENST00000316623.9:c.1720del | ENSP00000325527.5:p.Asp574MetfsTer5 | |
| ENST00000537463.6:c.636+29012del | ENSP00000440294.2:n.636+29012del | |
| NM_000138.4:c.1720del , LRG_778t1:c.1720del | NP_000129.3:p.Asp574MetfsTer5 | |
| NM_000138.5:c.1720del MANE Select | NP_000129.3:p.Asp574MetfsTer5 |