Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226954_5226955insGTGG , CM000673.2:g.5226954_5226955insGTGG | GRCh38 |
| NC_000011.9:g.5248184_5248185insGTGG , CM000673.1:g.5248184_5248185insGTGG | GRCh37 |
| NC_000011.8:g.5204760_5204761insGTGG | NCBI36 |
| NG_000007.3:g.70661_70662insCCAC | |
| NG_059281.1:g.5117_5118insCCAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.67_68insCCAC | ENSP00000494175.1:p.Glu23AlafsTer6 | |
| ENST00000335295.4:c.67_68insCCAC MANE Select | ENSP00000333994.3:p.Glu23AlafsTer6 | |
| ENST00000380315.2:c.67_68insCCAC | ENSP00000369671.2:p.Glu23AlafsTer6 | |
| ENST00000485743.1:n.118_119insCCAC | ||
| ENST00000633227.1:c.67_68insCCAC | ENSP00000488004.1:p.Glu23AlafsTer? | |
| NM_000518.4:c.67_68insCCAC | NP_000509.1:p.Glu23AlafsTer6 | |
| NM_000518.5:c.67_68insCCAC MANE Select | NP_000509.1:p.Glu23AlafsTer6 |