Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153740674_153740683delinsATCCTGGACG , CM000685.2:g.153740674_153740683delinsATCCTGGACG | GRCh38 |
| NC_000023.10:g.153006128_153006137delinsATCCTGGACG , CM000685.1:g.153006128_153006137delinsATCCTGGACG | GRCh37 |
| NC_000023.9:g.152659322_152659331delinsATCCTGGACG | NCBI36 |
| NG_009022.2:g.20807_20816delinsATCCTGGACG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1735_1744delinsATCCTGGACG MANE Select | ENSP00000218104.3:p.Ile579= | |
| ENST00000218104.5:c.1735_1744delinsATCCTGGACG | ENSP00000218104.3:p.Ile579= | |
| NM_000033.3:c.1735_1744delinsATCCTGGACG | NP_000024.2:p.Ile579= | |
| XR_938507.1:n.2207_2216delinsATCCTGGACG | ||
| XR_938507.2:n.2207_2216delinsATCCTGGACG | ||
| NM_000033.4:c.1735_1744delinsATCCTGGACG MANE Select | NP_000024.2:p.Ile579= |