Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.299404_299405delinsCG , CM000673.2:g.299404_299405delinsCG | GRCh38 |
| NC_000011.9:g.299404_299405delinsCG , CM000673.1:g.299404_299405delinsCG | GRCh37 |
| NC_000011.8:g.289404_289405delinsCG | NCBI36 |
| NG_032892.1:g.5122_5123delinsCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382614.2:c.86_87delinsCG MANE Select | ENSP00000372059.2:p.Pro29= | |
| NM_001025295.2:c.86_87delinsCG | NP_001020466.1:p.Pro29= | |
| NM_001025295.3:c.86_87delinsCG MANE Select | NP_001020466.1:p.Pro29= |