Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68429899_68429900del , CM000663.2:g.68429899_68429900del | GRCh38 |
| NC_000001.10:g.68895582_68895583del , CM000663.1:g.68895582_68895583del | GRCh37 |
| NC_000001.9:g.68668170_68668171del | NCBI36 |
| NG_008472.1:g.25060_25061del | |
| NG_008472.2:g.25060_25061del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1478_1479del MANE Select | ENSP00000262340.5:p.Pro493ArgfsTer19 | |
| ENST00000262340.5:c.1478_1479del | ENSP00000262340.5:p.Pro493ArgfsTer19 | |
| NM_000329.2:c.1478_1479del | NP_000320.1:p.Pro493ArgfsTer19 | |
| XM_017002027.1:c.1202_1203del | XP_016857516.1:p.Pro401ArgfsTer19 | |
| NM_000329.3:c.1478_1479del MANE Select | NP_000320.1:p.Pro493ArgfsTer19 |