Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48411064del , CM000677.2:g.48411064del | GRCh38 |
| NC_000015.9:g.48703261del , CM000677.1:g.48703261del | GRCh37 |
| NC_000015.8:g.46490553del | NCBI36 |
| NG_008805.2:g.239727del , LRG_778:g.239727del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1352del | ENSP00000453958.2:n.*1352del | |
| ENST00000682158.1:n.1925del | ||
| ENST00000682170.1:n.2725del | ||
| ENST00000682767.1:n.1841del | ||
| ENST00000316623.10:c.8544del MANE Select | ENSP00000325527.5:p.Lys2848AsnfsTer15 | |
| ENST00000316623.9:c.8544del | ENSP00000325527.5:p.Lys2848AsnfsTer15 | |
| ENST00000559133.5:c.3913del | ||
| NM_000138.4:c.8544del , LRG_778t1:c.8544del | NP_000129.3:p.Lys2848AsnfsTer15 | |
| NM_000138.5:c.8544del MANE Select | NP_000129.3:p.Lys2848AsnfsTer15 |