Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12548031_12548033dup , CM000686.2:g.12548031_12548033dup | GRCh38 |
| NC_000024.9:g.14659966_14659968dup , CM000686.1:g.14659966_14659968dup | GRCh37 |
| NC_000024.8:g.13169976_13169978dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000457658.6:n.653+1781_653+1783dup |