Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80152585_80152588dup , CM000677.2:g.80152585_80152588dup | GRCh38 |
| NC_000015.9:g.80444927_80444930dup , CM000677.1:g.80444927_80444930dup | GRCh37 |
| NC_000015.8:g.78231982_78231985dup | NCBI36 |
| NG_012833.1:g.4587_4590dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558022.5:c.-30+40_-30+43dup | ENSP00000453152.1:n.-30+40_-30+43dup |