Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.19589877dup , CM000686.2:g.19589877dup | GRCh38 |
| NC_000024.9:g.21751763dup , CM000686.1:g.21751763dup | GRCh37 |
| NC_000024.8:g.20211151dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686158.1:n.590-206dup | ||
| ENST00000693214.1:n.2027dup | ||
| ENST00000445715.6:n.491+265dup | ||
| ENST00000407724.7:n.836-206dup | ||
| ENST00000445715.5:n.492-206dup | ||
| ENST00000447520.5:n.492-206dup | ||
| ENST00000459719.6:n.1763-206dup | ||
| ENST00000585549.5:n.134+265dup | ||
| ENST00000587095.1:n.132+265dup | ||
| ENST00000588613.5:n.200+265dup | ||
| ENST00000589075.5:n.174-206dup | ||
| NR_045128.1:n.515+265dup | ||
| NR_045129.1:n.516-206dup |