Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226848_5226852del , CM000673.2:g.5226848_5226852del | GRCh38 |
| NC_000011.9:g.5248078_5248082del , CM000673.1:g.5248078_5248082del | GRCh37 |
| NC_000011.8:g.5204654_5204658del | NCBI36 |
| NG_000007.3:g.70764_70768del | |
| NG_059281.1:g.5220_5224del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.93-53_93-49del | ENSP00000494175.1:n.93-53_93-49del | |
| ENST00000335295.4:c.93-53_93-49del MANE Select | ENSP00000333994.3:n.93-53_93-49del | |
| ENST00000380315.2:c.93-53_93-49del | ENSP00000369671.2:n.93-53_93-49del | |
| ENST00000485743.1:n.144-53_144-49del | ||
| ENST00000633227.1:c.77-53_77-49del | ENSP00000488004.1:n.77-53_77-49del | |
| NM_000518.4:c.93-53_93-49del | NP_000509.1:n.93-53_93-49del | |
| NM_000518.5:c.93-53_93-49del MANE Select | NP_000509.1:n.93-53_93-49del |