Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153736225_153736226del , CM000685.2:g.153736225_153736226del | GRCh38 |
| NC_000023.10:g.153001679_153001680del , CM000685.1:g.153001679_153001680del | GRCh37 |
| NC_000023.9:g.152654873_152654874del | NCBI36 |
| NG_009022.2:g.16358_16359del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1195_1196del MANE Select | ENSP00000218104.3:p.Ile399Ter | |
| ENST00000218104.5:c.1195_1196del | ENSP00000218104.3:p.Ile399Ter | |
| ENST00000443684.2:n.198_199del | ||
| NM_000033.3:c.1195_1196del | NP_000024.2:p.Ile399Ter | |
| XR_938507.1:n.1611_1612del | ||
| XR_938507.2:n.1611_1612del | ||
| NM_000033.4:c.1195_1196del MANE Select | NP_000024.2:p.Ile399Ter |