Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204190435_204190436insCCC , CM000663.2:g.204190435_204190436insCCC | GRCh38 |
| NC_000001.10:g.204159563_204159564insCCC , CM000663.1:g.204159563_204159564insCCC | GRCh37 |
| NC_000001.9:g.202426186_202426187insCCC | NCBI36 |
| NG_032151.1:g.11056_11057insGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367194.5:c.*48_*49insGGG MANE Select | ENSP00000356162.4:n.*48_*49insGGG | |
| ENST00000367194.4:c.*48_*49insGGG | ENSP00000356162.4:n.*48_*49insGGG | |
| NM_002256.3:c.*48_*49insGGG | NP_002247.3:n.*48_*49insGGG | |
| XM_011509525.1:c.*48_*49insGGG | XP_011507827.1:n.*48_*49insGGG | |
| NM_002256.4:c.*48_*49insGGG MANE Select | NP_002247.3:n.*48_*49insGGG |