Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2340755_2340780delinsCTGCAGGGGGCGCCGCGGATGGCGCG , CM000678.2:g.2340755_2340780delinsCTGCAGGGGGCGCCGCGGATGGCGCG | GRCh38 |
| NC_000016.9:g.2390756_2390781delinsCTGCAGGGGGCGCCGCGGATGGCGCG , CM000678.1:g.2390756_2390781delinsCTGCAGGGGGCGCCGCGGATGGCGCG | GRCh37 |
| NC_000016.8:g.2330757_2330782delinsCTGCAGGGGGCGCCGCGGATGGCGCG | NCBI36 |
| NG_011790.1:g.4967_4992delinsCGCGCCATCCGCGGCGCCCCCTGCAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000640929.1:n.42+1424_42+1449delinsCTGCAGGGGGCGCCGCGGATGGCGCG | ||
| ENST00000512848.5:n.182+1424_182+1449delinsCTGCAGGGGGCGCCGCGGATGGCGCG |