Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94046949_94046951delinsCCC , CM000663.2:g.94046949_94046951delinsCCC | GRCh38 |
| NC_000001.10:g.94512505_94512507delinsCCC , CM000663.1:g.94512505_94512507delinsCCC | GRCh37 |
| NC_000001.9:g.94285093_94285095delinsCCC | NCBI36 |
| NG_009073.1:g.79199_79201delinsGGG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370225.4:c.2886_2888delinsGGG MANE Select | ENSP00000359245.3:p.Leu962= | |
| ENST00000649773.1:c.2664_2666delinsGGG | ENSP00000496882.1:p.Leu888= | |
| ENST00000370225.3:c.2886_2888delinsGGG | ENSP00000359245.3:p.Leu962= | |
| ENST00000536513.5:c.-64-6862_-64-6860delinsGGG | ENSP00000439707.2:n.-64-6862_-64-6860deli... | |
| NM_000350.2:c.2886_2888delinsGGG | NP_000341.2:p.Leu962= | |
| NM_000350.3:c.2886_2888delinsGGG MANE Select | NP_000341.2:p.Leu962= |