Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119676998_119676999del , CM000672.2:g.119676998_119676999del | GRCh38 |
| NC_000010.10:g.121436510_121436511del , CM000672.1:g.121436510_121436511del | GRCh37 |
| NC_000010.9:g.121426500_121426501del | NCBI36 |
| NG_016125.1:g.30629_30630del , LRG_742:g.30629_30630del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369085.8:c.1444_1445del MANE Select | ENSP00000358081.4:p.Asp482ArgfsTer13 | |
| ENST00000369085.7:c.1444_1445del | ENSP00000358081.3:p.Asp482ArgfsTer13 | |
| NM_004281.3:c.1444_1445del , LRG_742t1:c.1444_1445del | NP_004272.2:p.Asp482ArgfsTer13 | |
| XM_005270287.1:c.1441_1442del | XP_005270344.1:p.Asp481ArgfsTer13 | |
| XM_005270287.2:c.1441_1442del | XP_005270344.1:p.Asp481ArgfsTer13 | |
| NM_004281.4:c.1444_1445del MANE Select | NP_004272.2:p.Asp482ArgfsTer13 |