Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80152628_80152649dup , CM000677.2:g.80152628_80152649dup | GRCh38 |
| NC_000015.9:g.80444970_80444991dup , CM000677.1:g.80444970_80444991dup | GRCh37 |
| NC_000015.8:g.78232025_78232046dup | NCBI36 |
| NG_012833.1:g.4630_4651dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558022.5:c.-30+83_-30+104dup | ENSP00000453152.1:n.-30+83_-30+104dup |