Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68446806_68446807del , CM000663.2:g.68446806_68446807del | GRCh38 |
| NC_000001.10:g.68912489_68912490del , CM000663.1:g.68912489_68912490del | GRCh37 |
| NC_000001.9:g.68685077_68685078del | NCBI36 |
| NG_008472.1:g.8154_8155del | |
| NG_008472.2:g.8154_8155del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.149_150del MANE Select | ENSP00000262340.5:p.Phe50Ter | |
| ENST00000262340.5:c.149_150del | ENSP00000262340.5:p.Phe50Ter | |
| NM_000329.2:c.149_150del | NP_000320.1:p.Phe50Ter | |
| XM_017002027.1:c.-32+1818_-32+1819del | XP_016857516.1:n.-32+1818_-32+1819del | |
| NM_000329.3:c.149_150del MANE Select | NP_000320.1:p.Phe50Ter |