Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80152639_80152640insCGGGGGGGGGGGGGGCG , CM000677.2:g.80152639_80152640insCGGGGGGGGGGGGGGCG | GRCh38 |
| NC_000015.9:g.80444981_80444982insCGGGGGGGGGGGGGGCG , CM000677.1:g.80444981_80444982insCGGGGGGGGGGGGGGCG | GRCh37 |
| NC_000015.8:g.78232036_78232037insCGGGGGGGGGGGGGGCG | NCBI36 |
| NG_012833.1:g.4641_4642insCGGGGGGGGGGGGGGCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558022.5:c.-30+94_-30+95insCGGGGGGGGGGGGGGCG | ENSP00000453152.1:n.-30+94_-30+95insCGGGGGGGGGGGGGGCG |