Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.27750781_27750783delinsGAA , CM000684.2:g.27750781_27750783delinsGAA | GRCh38 |
| NC_000022.10:g.28146769_28146771delinsGAA , CM000684.1:g.28146769_28146771delinsGAA | GRCh37 |
| NC_000022.9:g.26476769_26476771delinsGAA | NCBI36 |
| NG_023258.1:g.55716_55718delinsTTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703102.1:n.620_622delinsTTC | ||
| ENST00000302326.5:c.*132_*134delinsTTC MANE Select | ENSP00000304956.4:n.*132_*134delinsTTC | |
| ENST00000302326.4:c.*132_*134delinsTTC | ENSP00000304956.4:n.*132_*134delinsTTC | |
| ENST00000424656.1:c.448_450delinsTTC | ||
| ENST00000497225.1:n.451_453delinsTTC | ||
| NM_002430.2:c.*132_*134delinsTTC | NP_002421.3:n.*132_*134delinsTTC | |
| NM_002430.3:c.*132_*134delinsTTC MANE Select | NP_002421.3:n.*132_*134delinsTTC |