Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45984495_45984497delinsACG , CM000683.2:g.45984495_45984497delinsACG | GRCh38 |
| NC_000021.8:g.47404409_47404411delinsACG , CM000683.1:g.47404409_47404411delinsACG | GRCh37 |
| NC_000021.7:g.46228837_46228839delinsACG | NCBI36 |
| NG_008674.1:g.7747_7749delinsACG , LRG_475:g.7747_7749delinsACG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.428+26_428+28delinsACG MANE Select | ENSP00000355180.3:n.428+26_428+28delinsACG | |
| ENST00000361866.7:c.428+26_428+28delinsACG | ENSP00000355180.3:n.428+26_428+28delinsACG | |
| ENST00000612273.1:c.428+26_428+28delinsACG | ENSP00000483630.1:n.428+26_428+28delinsACG | |
| NM_001848.2:c.428+26_428+28delinsACG , LRG_475t1:c.428+26_428+28delinsACG | NP_001839.2:n.428+26_428+28delinsACG | |
| NM_001848.3:c.428+26_428+28delinsACG MANE Select | NP_001839.2:n.428+26_428+28delinsACG |