Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80152578_80152579insTT , CM000677.2:g.80152578_80152579insTT | GRCh38 |
| NC_000015.9:g.80444920_80444921insTT , CM000677.1:g.80444920_80444921insTT | GRCh37 |
| NC_000015.8:g.78231975_78231976insTT | NCBI36 |
| NG_012833.1:g.4580_4581insTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558022.5:c.-30+33_-30+34insTT | ENSP00000453152.1:n.-30+33_-30+34insTT |