Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52488336_52488338del , CM000674.2:g.52488336_52488338del | GRCh38 |
| NC_000012.11:g.52882120_52882122del , CM000674.1:g.52882120_52882122del | GRCh37 |
| NC_000012.10:g.51168387_51168389del | NCBI36 |
| NG_008298.1:g.10063_10065del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330722.7:c.1417_1419del MANE Select | ENSP00000369317.3:p.Glu473del | |
| ENST00000330722.6:c.1417_1419del | ENSP00000369317.3:p.Glu473del | |
| NM_005554.3:c.1417_1419del | NP_005545.1:p.Glu473del | |
| NM_005554.4:c.1417_1419del MANE Select | NP_005545.1:p.Glu473del |