Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68429788del , CM000663.2:g.68429788del | GRCh38 |
| NC_000001.10:g.68895471del , CM000663.1:g.68895471del | GRCh37 |
| NC_000001.9:g.68668059del | NCBI36 |
| NG_008472.1:g.25172del | |
| NG_008472.2:g.25172del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1590del MANE Select | ENSP00000262340.5:p.Phe530LeufsTer? | |
| ENST00000262340.5:c.1590del | ENSP00000262340.5:p.Phe530LeufsTer? | |
| NM_000329.2:c.1590del | NP_000320.1:p.Phe530LeufsTer? | |
| XM_017002027.1:c.1314del | XP_016857516.1:p.Phe438LeufsTer? | |
| NM_000329.3:c.1590del MANE Select | NP_000320.1:p.Phe530LeufsTer? |