Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94042917_94042918delinsCG , CM000663.2:g.94042917_94042918delinsCG | GRCh38 |
| NC_000001.10:g.94508473_94508474delinsCG , CM000663.1:g.94508473_94508474delinsCG | GRCh37 |
| NC_000001.9:g.94281061_94281062delinsCG | NCBI36 |
| NG_009073.1:g.83232_83233delinsCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.3191-20_3191-19delinsCG MANE Select | ENSP00000359245.3:n.3191-20_3191-19delinsCG | |
| ENST00000370225.3:c.3191-20_3191-19delinsCG | ENSP00000359245.3:n.3191-20_3191-19delinsCG | |
| ENST00000536513.5:c.-64-2829_-64-2828delinsCG | ENSP00000439707.2:n.-64-2829_-64-2828delinsCG | |
| NM_000350.2:c.3191-20_3191-19delinsCG | NP_000341.2:n.3191-20_3191-19delinsCG | |
| NM_000350.3:c.3191-20_3191-19delinsCG MANE Select | NP_000341.2:n.3191-20_3191-19delinsCG |