Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48411033del , CM000677.2:g.48411033del | GRCh38 |
| NC_000015.9:g.48703230del , CM000677.1:g.48703230del | GRCh37 |
| NC_000015.8:g.46490522del | NCBI36 |
| NG_008805.2:g.239756del , LRG_778:g.239756del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1381del | ENSP00000453958.2:n.*1381del | |
| ENST00000682158.1:n.1954del | ||
| ENST00000682170.1:n.2754del | ||
| ENST00000682767.1:n.1870del | ||
| ENST00000316623.10:c.8573del MANE Select | ENSP00000325527.5:p.Leu2858ArgfsTer5 | |
| ENST00000316623.9:c.8573del | ENSP00000325527.5:p.Leu2858ArgfsTer5 | |
| ENST00000559133.5:c.3942del | ||
| NM_000138.4:c.8573del , LRG_778t1:c.8573del | NP_000129.3:p.Leu2858ArgfsTer5 | |
| NM_000138.5:c.8573del MANE Select | NP_000129.3:p.Leu2858ArgfsTer5 |