Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226773_5226779del , CM000673.2:g.5226773_5226779del | GRCh38 |
| NC_000011.9:g.5248003_5248009del , CM000673.1:g.5248003_5248009del | GRCh37 |
| NC_000011.8:g.5204579_5204585del | NCBI36 |
| NG_000007.3:g.70838_70844del | |
| NG_059281.1:g.5294_5300del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000518.5:c.114_120del MANE Select | NP_000509.1:p.Trp38Ter |
| ENST00000335295.4:c.114_120del MANE Select | ENSP00000333994.3:p.Trp38Ter |
| NM_000518.4:c.114_120del | NP_000509.1:p.Trp38Ter |
| ENST00000380315.2:c.114_120del | ENSP00000369671.2:p.Trp38Ter |
| ENST00000475226.1:n.46_52del | |
| ENST00000485743.1:n.165_171del | |
| ENST00000633227.1:c.98_104del | ENSP00000488004.1:p.Gly33GlufsTer4 |
| ENST00000647020.1:c.114_120del | ENSP00000494175.1:p.Trp38Ter |