Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24259143_24259148del , CM000676.2:g.24259143_24259148del | GRCh38 |
| NC_000014.8:g.24728349_24728354del , CM000676.1:g.24728349_24728354del | GRCh37 |
| NC_000014.7:g.23798189_23798194del | NCBI36 |
| NG_007150.1:g.9019_9024del | |
| NG_007150.2:g.9019_9024del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000206765.11:c.1086_1091del MANE Select | ENSP00000206765.6:p.Leu363_Ser364del | |
| ENST00000206765.10:c.1086_1091del | ENSP00000206765.6:p.Leu363_Ser364del | |
| ENST00000544573.5:c.-28-760_-28-755del | ENSP00000439446.1:n.-28-760_-28-755del | |
| ENST00000559136.1:c.159_164del | ENSP00000453337.1:p.Leu54_Ser55del | |
| NM_000359.2:c.1086_1091del | NP_000350.1:p.Leu363_Ser364del | |
| NM_000359.3:c.1086_1091del MANE Select | NP_000350.1:p.Leu363_Ser364del |