Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68429919_68429920del , CM000663.2:g.68429919_68429920del | GRCh38 |
| NC_000001.10:g.68895602_68895603del , CM000663.1:g.68895602_68895603del | GRCh37 |
| NC_000001.9:g.68668190_68668191del | NCBI36 |
| NG_008472.1:g.25041_25042del | |
| NG_008472.2:g.25041_25042del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1459_1460del MANE Select | ENSP00000262340.5:p.Leu487GlufsTer25 | |
| ENST00000262340.5:c.1459_1460del | ENSP00000262340.5:p.Leu487GlufsTer25 | |
| NM_000329.2:c.1459_1460del | NP_000320.1:p.Leu487GlufsTer25 | |
| XM_017002027.1:c.1183_1184del | XP_016857516.1:p.Leu395GlufsTer25 | |
| NM_000329.3:c.1459_1460del MANE Select | NP_000320.1:p.Leu487GlufsTer25 |