Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80152774_80152775delinsCA , CM000677.2:g.80152774_80152775delinsCA | GRCh38 |
| NC_000015.9:g.80445116_80445117delinsCA , CM000677.1:g.80445116_80445117delinsCA | GRCh37 |
| NC_000015.8:g.78232171_78232172delinsCA | NCBI36 |
| NG_012833.1:g.4776_4777delinsCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558022.5:c.-30+229_-30+230delinsCA | ENSP00000453152.1:n.-30+229_-30+230delinsCA |