Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226944dup , CM000673.2:g.5226944dup | GRCh38 |
| NC_000011.9:g.5248174dup , CM000673.1:g.5248174dup | GRCh37 |
| NC_000011.8:g.5204750dup | NCBI36 |
| NG_000007.3:g.70672dup | |
| NG_059281.1:g.5128dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000518.5:c.78dup MANE Select | NP_000509.1:p.Glu27Ter |
| ENST00000335295.4:c.78dup MANE Select | ENSP00000333994.3:p.Glu27Ter |
| NM_000518.4:c.78dup | NP_000509.1:p.Glu27Ter |
| ENST00000380315.2:c.78dup | ENSP00000369671.2:p.Glu27Ter |
| ENST00000485743.1:n.129dup | |
| ENST00000633227.1:c.76+2dup | ENSP00000488004.1:n.76+2dup |
| ENST00000647020.1:c.78dup | ENSP00000494175.1:p.Glu27Ter |