Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204190409_204190410insTGCT , CM000663.2:g.204190409_204190410insTGCT | GRCh38 |
| NC_000001.10:g.204159537_204159538insTGCT , CM000663.1:g.204159537_204159538insTGCT | GRCh37 |
| NC_000001.9:g.202426160_202426161insTGCT | NCBI36 |
| NG_032151.1:g.11083_11084insGCAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367194.5:c.*75_*76insGCAA MANE Select | ENSP00000356162.4:n.*75_*76insGCAA | |
| ENST00000367194.4:c.*75_*76insGCAA | ENSP00000356162.4:n.*75_*76insGCAA | |
| NM_002256.3:c.*75_*76insGCAA | NP_002247.3:n.*75_*76insGCAA | |
| XM_011509525.1:c.*75_*76insGCAA | XP_011507827.1:n.*75_*76insGCAA | |
| NM_002256.4:c.*75_*76insGCAA MANE Select | NP_002247.3:n.*75_*76insGCAA |