Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119320650_119320651insC , CM000666.2:g.119320650_119320651insC | GRCh38 |
| NC_000004.11:g.120241805_120241806insC , CM000666.1:g.120241805_120241806insC | GRCh37 |
| NC_000004.10:g.120461253_120461254insC | NCBI36 |
| NG_011444.1:g.6511_6512insG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274024.4:c.240+19_240+20insG MANE Select | ENSP00000274024.3:n.240+19_240+20insG | |
| ENST00000274024.3:c.240+19_240+20insG | ENSP00000274024.3:n.240+19_240+20insG | |
| NM_000134.3:c.240+19_240+20insG | NP_000125.2:n.240+19_240+20insG | |
| NM_000134.4:c.240+19_240+20insG MANE Select | NP_000125.2:n.240+19_240+20insG |