Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25010166_25010167insCCCCC , CM000685.2:g.25010166_25010167insCCCCC | GRCh38 |
| NC_000023.10:g.25028283_25028284insCCCCC , CM000685.1:g.25028283_25028284insCCCCC | GRCh37 |
| NC_000023.9:g.24938204_24938205insCCCCC | NCBI36 |
| NG_008281.1:g.10783_10784insGGGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.1119+94_1119+95insGGGGG MANE Select | ENSP00000368332.4:n.1119+94_1119+95insGGGGG | |
| ENST00000379044.4:c.1119+94_1119+95insGGGGG | ENSP00000368332.4:n.1119+94_1119+95insGGGGG | |
| NM_139058.2:c.1119+94_1119+95insGGGGG | NP_620689.1:n.1119+94_1119+95insGGGGG | |
| NM_139058.3:c.1119+94_1119+95insGGGGG MANE Select | NP_620689.1:n.1119+94_1119+95insGGGGG |