Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133354700del , CM000671.2:g.133354700del | GRCh38 |
| NC_000009.10:g.135211376del | NCBI36 |
| NG_008477.1:g.6808del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003172.4:c.283del MANE Select | NP_003163.1:p.Glu95SerfsTer18 |
| ENST00000371974.8:c.283del MANE Select | ENSP00000361042.3:p.Glu95SerfsTer18 |
| NM_001280787.1:c.-45del | NP_001267716.1:n.-45del |
| NM_003172.3:c.283del | NP_003163.1:p.Glu95SerfsTer18 |
| ENST00000371974.7:c.283del | ENSP00000361042.3:p.Glu95SerfsTer18 |
| ENST00000437995.1:n.229del | |
| ENST00000615505.4:c.-45del | ENSP00000482067.1:n.-45del |
| XM_011518942.1:c.-45del | XP_011517244.1:n.-45del |