Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226798_5226800dup , CM000673.2:g.5226798_5226800dup | GRCh38 |
| NC_000011.9:g.5248028_5248030dup , CM000673.1:g.5248028_5248030dup | GRCh37 |
| NC_000011.8:g.5204604_5204606dup | NCBI36 |
| NG_000007.3:g.70816_70818dup | |
| NG_059281.1:g.5272_5274dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000518.4:c.93-1_94dup | |
| NM_000518.5:c.93-1_94dup | |
| ENST00000335295.4:c.93-1_94dup | |
| ENST00000380315.2:c.93-1_94dup | |
| ENST00000475226.1:n.24_26dup | |
| ENST00000485743.1:n.144-1_145dup | |
| ENST00000633227.1:c.77-1_78dup | |
| ENST00000647020.1:c.93-1_94dup |