Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013543_25013587del , CM000685.2:g.25013543_25013587del | GRCh38 |
| NC_000023.10:g.25031660_25031704del , CM000685.1:g.25031660_25031704del | GRCh37 |
| NC_000023.9:g.24941581_24941625del | NCBI36 |
| NG_008281.1:g.7364_7408del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.410_454del MANE Select | ENSP00000368332.4:p.Glu137_Ala151del | |
| ENST00000379044.4:c.410_454del | ENSP00000368332.4:p.Glu137_Ala151del | |
| NM_139058.2:c.410_454del | NP_620689.1:p.Glu137_Ala151del | |
| NM_139058.3:c.410_454del MANE Select | NP_620689.1:p.Glu137_Ala151del |