Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.144398380_144398383del , CM000669.2:g.144398380_144398383del | GRCh38 |
| NC_000007.13:g.144095473_144095476del , CM000669.1:g.144095473_144095476del | GRCh37 |
| NC_000007.12:g.143726406_143726409del | NCBI36 |
| NG_028979.1:g.16846_16849del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643164.1:c.771_774del | ENSP00000495343.1:p.Phe258CysfsTer24 | |
| ENST00000645489.1:c.1323_1326del | ENSP00000496732.1:p.Phe442CysfsTer24 | |
| ENST00000467773.1:c.1674_1677del MANE Select | ENSP00000419457.1:p.Phe559CysfsTer24 | |
| ENST00000483238.5:c.1578_1581del | ENSP00000419565.1:p.Phe527CysfsTer24 | |
| NM_001080413.3:c.1674_1677del MANE Select | NP_001073882.3:p.Phe559CysfsTer24 | |
| XM_011515791.1:c.1323_1326del | XP_011514093.1:p.Phe442CysfsTer24 | |
| XM_017011742.2:c.1578_1581del | XP_016867231.1:p.Phe527CysfsTer24 |