Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.86511421_86511425del , CM000678.2:g.86511421_86511425del | GRCh38 |
| NC_000016.9:g.86545027_86545031del , CM000678.1:g.86545027_86545031del | GRCh37 |
| NC_000016.8:g.85102528_85102532del | NCBI36 |
| NG_016273.1:g.5895_5899del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001451.3:c.852_856del MANE Select | NP_001442.2:p.Tyr284Ter |
| ENST00000262426.6:c.852_856del MANE Select | ENSP00000262426.4:p.Tyr284Ter |
| NM_001451.2:c.852_856del | NP_001442.2:p.Tyr284Ter |
| ENST00000262426.5:c.852_856del | ENSP00000262426.4:p.Tyr284Ter |