Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153736168_153736181del , CM000685.2:g.153736168_153736181del | GRCh38 |
| NC_000023.10:g.153001622_153001635del , CM000685.1:g.153001622_153001635del | GRCh37 |
| NC_000023.9:g.152654816_152654829del | NCBI36 |
| NG_009022.2:g.16301_16314del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1138_1151del MANE Select | ENSP00000218104.3:p.Glu380LeufsTer16 | |
| ENST00000218104.5:c.1138_1151del | ENSP00000218104.3:p.Glu380LeufsTer16 | |
| ENST00000443684.2:n.141_154del | ||
| NM_000033.3:c.1138_1151del | NP_000024.2:p.Glu380LeufsTer16 | |
| XR_938507.1:n.1554_1567del | ||
| XR_938507.2:n.1554_1567del | ||
| NM_000033.4:c.1138_1151del MANE Select | NP_000024.2:p.Glu380LeufsTer16 |