Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122461629_122461632delinsACCG , CM000672.2:g.122461629_122461632delinsACCG | GRCh38 |
| NC_000010.10:g.124221145_124221148delinsACCG , CM000672.1:g.124221145_124221148delinsACCG | GRCh37 |
| NC_000010.9:g.124211135_124211138delinsACCG | NCBI36 |
| NG_011554.1:g.5105_5108delinsACCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.-24_-21delinsACCG MANE Select | ENSP00000357980.3:n.-24_-21delinsACCG | |
| ENST00000648167.1:c.154+2920_154+2923delinsACCG | ENSP00000498033.1:n.154+2920_154+2923delinsACCG | |
| ENST00000368984.7:c.-24_-21delinsACCG | ENSP00000357980.3:n.-24_-21delinsACCG | |
| NM_002775.4:c.-24_-21delinsACCG | NP_002766.1:n.-24_-21delinsACCG | |
| NM_002775.5:c.-24_-21delinsACCG MANE Select | NP_002766.1:n.-24_-21delinsACCG |