Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72120704_72120705dup , CM000679.2:g.72120704_72120705dup | GRCh38 |
| NC_000017.10:g.70116845_70116846dup , CM000679.1:g.70116845_70116846dup | GRCh37 |
| NC_000017.9:g.67628440_67628441dup | NCBI36 |
| NG_012490.1:g.4685_4686dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_103737.1:n.31+78_31+79dup |