Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226981_5227006del , CM000673.2:g.5226981_5227006del | GRCh38 |
| NC_000011.9:g.5248211_5248236del , CM000673.1:g.5248211_5248236del | GRCh37 |
| NC_000011.8:g.5204787_5204812del | NCBI36 |
| NG_000007.3:g.70614_70639del | |
| NG_059281.1:g.5070_5095del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647020.1:c.20_45del | ENSP00000494175.1:p.Glu7ValfsTer8 | |
| ENST00000335295.4:c.20_45del MANE Select | ENSP00000333994.3:p.Glu7ValfsTer8 | |
| ENST00000380315.2:c.20_45del | ENSP00000369671.2:p.Glu7ValfsTer8 | |
| ENST00000485743.1:n.71_96del | ||
| ENST00000633227.1:c.20_45del | ENSP00000488004.1:p.Glu7ValfsTer8 | |
| NM_000518.4:c.20_45del | NP_000509.1:p.Glu7ValfsTer8 | |
| NM_000518.5:c.20_45del MANE Select | NP_000509.1:p.Glu7ValfsTer8 |