Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.74529321_74529323del , CM000685.2:g.74529321_74529323del | GRCh38 |
| NC_000023.10:g.73749156_73749158del , CM000685.1:g.73749156_73749158del | GRCh37 |
| NC_000023.9:g.73665881_73665883del | NCBI36 |
| NG_011641.1:g.113072_113074del | |
| NG_011641.2:g.113072_113074del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000587091.6:c.1279_1281del MANE Select | ENSP00000465734.1:p.Phe427del | |
| ENST00000636771.1:c.1188_1190del | ||
| ENST00000587091.5:c.1279_1281del | ENSP00000465734.1:p.Phe427del | |
| ENST00000590447.1:c.611-2012_611-2010del | ||
| NM_006517.4:c.1279_1281del | NP_006508.2:p.Phe427del | |
| XM_005262294.1:c.1171-2012_1171-2010del | XP_005262351.1:n.1171-2012_1171-2010del | |
| NM_006517.5:c.1279_1281del MANE Select | NP_006508.2:p.Phe427del |