Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154379280_154379289delinsCCGCGCAGCG , CM000685.2:g.154379280_154379289delinsCCGCGCAGCG | GRCh38 |
| NC_000023.10:g.153607640_153607649delinsCCGCGCAGCG , CM000685.1:g.153607640_153607649delinsCCGCGCAGCG | GRCh37 |
| NC_000023.9:g.153260834_153260843delinsCCGCGCAGCG | NCBI36 |
| NG_008677.1:g.9845_9854delinsCCGCGCAGCG , LRG_745:g.9845_9854delinsCCGCGCAGCG | |
| NG_011506.1:g.358_367delinsCGCTGCGCGG | |
| NG_011506.2:g.350_359delinsCGCTGCGCGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369835.3:c.-205_-196delinsCCGCGCAGCG | ENSP00000358850.3:n.-205_-196delinsCCGCGCAGCG | |
| ENST00000369842.8:c.-205_-196delinsCCGCGCAGCG | ENSP00000358857.4:n.-205_-196delinsCCGCGCAGCG | |
| NM_000117.2:c.-205_-196delinsCCGCGCAGCG , LRG_745t1:c.-205_-196delinsCCGCGCAGCG | NP_000108.1:n.-205_-196delinsCCGCGCAGCG | |
| XM_024452349.1:c.-413_-404delinsCCGCGCAGCG | XP_024308117.1:n.-413_-404delinsCCGCGCAGCG |