Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.81478649_81478651delinsGAA , CM000670.2:g.81478649_81478651delinsGAA | GRCh38 |
| NC_000008.10:g.82390884_82390886delinsGAA , CM000670.1:g.82390884_82390886delinsGAA | GRCh37 |
| NC_000008.9:g.82553439_82553441delinsGAA | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256104.5:c.*214_*216delinsTTC MANE Select | ENSP00000256104.4:n.*214_*216delinsTTC | |
| ENST00000256104.4:c.*214_*216delinsTTC | ENSP00000256104.4:n.*214_*216delinsTTC | |
| NM_001442.2:c.*214_*216delinsTTC | NP_001433.1:n.*214_*216delinsTTC | |
| XR_001745980.1:n.514+16675_514+16677delinsGAA | ||
| NM_001442.3:c.*214_*216delinsTTC MANE Select | NP_001433.1:n.*214_*216delinsTTC |