Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.71242924del , CM000677.2:g.71242924del | GRCh38 |
| NC_000015.9:g.71535263del , CM000677.1:g.71535263del | GRCh37 |
| NC_000015.8:g.69322317del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024817.3:c.740del MANE Select | NP_079093.2:p.Leu247Ter |
| ENST00000261862.8:c.740del MANE Select | ENSP00000261862.8:p.Leu247Ter |
| NM_001394532.1:c.740del | NP_001381461.1:p.Leu247Ter |
| NM_024817.2:c.740del | NP_079093.2:p.Leu247Ter |
| ENST00000355327.7:c.740del | ENSP00000347484.3:p.Leu247Ter |
| XM_006720692.2:c.740del | XP_006720755.1:p.Leu247Ter |
| XM_006720692.3:c.740del | XP_006720755.1:p.Leu247Ter |
| XM_017022582.2:c.-6del | XP_016878071.1:n.-6del |