Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10659038_10659042delinsTCTGC , CM000682.2:g.10659038_10659042delinsTCTGC | GRCh38 |
| NC_000020.10:g.10639686_10639690delinsTCTGC , CM000682.1:g.10639686_10639690delinsTCTGC | GRCh37 |
| NC_000020.9:g.10587686_10587690delinsTCTGC | NCBI36 |
| NG_007496.1:g.20005_20009delinsGCAGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.440-320_440-316delinsGCAGA MANE Select | ENSP00000254958.4:n.440-320_440-316delinsGCAGA | |
| ENST00000254958.9:c.440-320_440-316delinsGCAGA | ENSP00000254958.4:n.440-320_440-316delinsGCAGA | |
| ENST00000423891.6:n.306-320_306-316delinsGCAGA | ||
| NM_000214.2:c.440-320_440-316delinsGCAGA | NP_000205.1:n.440-320_440-316delinsGCAGA | |
| NM_000214.3:c.440-320_440-316delinsGCAGA MANE Select | NP_000205.1:n.440-320_440-316delinsGCAGA |