Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.34008101_34008118delinsCCGGCGCCACGCCCCCAG , CM000667.2:g.34008101_34008118delinsCCGGCGCCACGCCCCCAG | GRCh38 |
| NC_000005.9:g.34008206_34008223delinsCCGGCGCCACGCCCCCAG , CM000667.1:g.34008206_34008223delinsCCGGCGCCACGCCCCCAG | GRCh37 |
| NC_000005.8:g.34043963_34043980delinsCCGGCGCCACGCCCCCAG | NCBI36 |
| NG_016211.1:g.4998_5015delinsCTGGGGGCGTGGCGCCGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382079.3:c.690-2219_690-2202delinsCTGGGGGCGTGGCGCCGG | ENSP00000371511.3:n.690-2219_690-2202delinsCTGGGGGCGTGGCGCCGG... | |
| NR_037951.1:n.765-2219_765-2202delinsCTGGGGGCGTGGCGCCGG |