Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40932037_40932041delinsCGGGG , CM000677.2:g.40932037_40932041delinsCGGGG | GRCh38 |
| NC_000015.9:g.41224235_41224239delinsCGGGG , CM000677.1:g.41224235_41224239delinsCGGGG | GRCh37 |
| NC_000015.8:g.39011527_39011531delinsCGGGG | NCBI36 |
| NG_046974.1:g.7705_7709delinsCGGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249749.7:c.659-134_659-130delinsCGGGG MANE Select | ENSP00000249749.5:n.659-134_659-130delinsCGGGG | |
| ENST00000249749.6:c.659-134_659-130delinsCGGGG | ENSP00000249749.5:n.659-134_659-130delinsCGGGG | |
| ENST00000559440.1:n.888-134_888-130delinsCGGGG | ||
| NM_019074.3:c.659-134_659-130delinsCGGGG | NP_061947.1:n.659-134_659-130delinsCGGGG | |
| NM_019074.4:c.659-134_659-130delinsCGGGG MANE Select | NP_061947.1:n.659-134_659-130delinsCGGGG |