Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24259230_24259239del , CM000676.2:g.24259230_24259239del | GRCh38 |
| NC_000014.8:g.24728436_24728445del , CM000676.1:g.24728436_24728445del | GRCh37 |
| NC_000014.7:g.23798276_23798285del | NCBI36 |
| NG_007150.1:g.8932_8941del | |
| NG_007150.2:g.8932_8941del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000206765.11:c.999_1008del MANE Select | ENSP00000206765.6:p.Asp333GlufsTer3 | |
| ENST00000206765.10:c.999_1008del | ENSP00000206765.6:p.Asp333GlufsTer3 | |
| ENST00000544573.5:c.-28-847_-28-838del | ENSP00000439446.1:n.-28-847_-28-838del | |
| ENST00000559136.1:c.72_81del | ENSP00000453337.1:p.Asp24GlufsTer3 | |
| NM_000359.2:c.999_1008del | NP_000350.1:p.Asp333GlufsTer3 | |
| NM_000359.3:c.999_1008del MANE Select | NP_000350.1:p.Asp333GlufsTer3 |