Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226948_5226950del , CM000673.2:g.5226948_5226950del | GRCh38 |
| NC_000011.9:g.5248178_5248180del , CM000673.1:g.5248178_5248180del | GRCh37 |
| NC_000011.8:g.5204754_5204756del | NCBI36 |
| NG_000007.3:g.70671_70673del | |
| NG_059281.1:g.5127_5129del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000518.5:c.77_79del MANE Select | NP_000509.1:p.Gly26del |
| ENST00000335295.4:c.77_79del MANE Select | ENSP00000333994.3:p.Gly26del |
| NM_000518.4:c.77_79del | NP_000509.1:p.Gly26del |
| ENST00000380315.2:c.77_79del | ENSP00000369671.2:p.Gly26del |
| ENST00000485743.1:n.128_130del | |
| ENST00000633227.1:c.76+1_76+3del | |
| ENST00000647020.1:c.77_79del | ENSP00000494175.1:p.Gly26del |