Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7668204dup , CM000679.2:g.7668204dup | GRCh38 |
| NC_000017.10:g.7571522dup , CM000679.1:g.7571522dup | GRCh37 |
| NC_000017.9:g.7512247dup | NCBI36 |
| NG_017013.2:g.24348dup , LRG_321:g.24348dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000359597.8:c.994-1959dup | ENSP00000352610.4:n.994-1959dup | |
| ENST00000413465.6:c.782+5978dup | ENSP00000410739.2:n.782+5978dup | |
| ENST00000635293.1:c.984-778dup | ENSP00000488924.1:n.984-778dup |