Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6780640_6780641del , CM000679.2:g.6780640_6780641del | GRCh38 |
| NC_000017.10:g.6683959_6683960del , CM000679.1:g.6683959_6683960del | GRCh37 |
| NC_000017.9:g.6624683_6624684del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321535.5:c.772_773del MANE Select | ENSP00000321386.4:p.Cys258ProfsTer4 | |
| ENST00000321535.4:c.772_773del | ENSP00000321386.4:p.Cys258ProfsTer4 | |
| NM_153230.2:c.772_773del | NP_694962.1:p.Cys258ProfsTer4 | |
| XM_011523697.1:c.772_773del | XP_011521999.1:p.Cys258ProfsTer4 | |
| XR_243544.3:n.950_951del | ||
| NM_153230.3:c.772_773del MANE Select | NP_694962.1:p.Cys258ProfsTer4 |