Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6780732_6780734dup , CM000679.2:g.6780732_6780734dup | GRCh38 |
| NC_000017.10:g.6684051_6684053dup , CM000679.1:g.6684051_6684053dup | GRCh37 |
| NC_000017.9:g.6624775_6624777dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321535.5:c.864_866dup MANE Select | ENSP00000321386.4:p.Phe289_Glu290insPhe | |
| ENST00000321535.4:c.864_866dup | ENSP00000321386.4:p.Phe289_Glu290insPhe | |
| NM_153230.2:c.864_866dup | NP_694962.1:p.Phe289_Glu290insPhe | |
| XM_011523697.1:c.864_866dup | XP_011521999.1:p.Phe289_Glu290insPhe | |
| XR_243544.3:n.1042_1044dup | ||
| NM_153230.3:c.864_866dup MANE Select | NP_694962.1:p.Phe289_Glu290insPhe |