Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.9994010_9994011dup , CM000686.2:g.9994010_9994011dup | GRCh38 |
| NC_000024.9:g.9831619_9831620dup , CM000686.1:g.9831619_9831620dup | GRCh37 |
| NC_000024.8:g.10441619_10441620dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651645.1:n.953+1607_953+1608dup |