Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3082949_3082950insG , CM000682.2:g.3082949_3082950insG | GRCh38 |
| NC_000020.10:g.3063595_3063596insG , CM000682.1:g.3063595_3063596insG | GRCh37 |
| NC_000020.9:g.3011595_3011596insG | NCBI36 |
| NG_008663.1:g.6775_6776insC , LRG_715:g.6775_6776insC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380293.3:c.322+27_322+28insC MANE Select | ENSP00000369647.3:n.322+27_322+28insC | |
| NM_000490.4:c.322+27_322+28insC , LRG_715t1:c.322+27_322+28insC | NP_000481.2:n.322+27_322+28insC | |
| XM_011529267.1:c.322+27_322+28insC | XP_011527569.1:n.322+27_322+28insC | |
| XM_011529267.2:c.322+27_322+28insC | XP_011527569.1:n.322+27_322+28insC | |
| NM_000490.5:c.322+27_322+28insC MANE Select | NP_000481.2:n.322+27_322+28insC |