Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66070596_66070619dup , CM000673.2:g.66070596_66070619dup | GRCh38 |
| NC_000011.9:g.65838067_65838090dup , CM000673.1:g.65838067_65838090dup | GRCh37 |
| NC_000011.8:g.65594643_65594666dup | NCBI36 |
| NG_033900.1:g.5244_5267dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018026.4:c.110_133dup MANE Select | NP_060496.2:p.Gln44_Pro45insGlnGlnGlnGlnProProGlnGln |
| ENST00000320580.9:c.110_133dup MANE Select | ENSP00000316454.4:p.Gln44_Pro45insGlnGlnGlnGlnProProGlnGln |
| NM_018026.3:c.110_133dup | NP_060496.2:p.Gln44_Pro45insGlnGlnGlnGlnProProGlnGln |
| ENST00000320580.8:c.110_133dup | ENSP00000316454.4:p.Gln44_Pro45insGlnGlnGlnGlnProProGlnGln |
| ENST00000527224.1:n.234_257dup | |
| XR_001747924.1:n.321_344dup |