Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.13316248_13316252delinsAACAG , CM000682.2:g.13316248_13316252delinsAACAG | GRCh38 |
| NC_000020.10:g.13296895_13296899delinsAACAG , CM000682.1:g.13296895_13296899delinsAACAG | GRCh37 |
| NC_000020.9:g.13244895_13244899delinsAACAG | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_937280.1:n.601-197_601-193delinsCTGTT | ||
| XM_017027680.1:c.878-8818_878-8814delinsAACAG (ISM1) | XP_016883169.1:n.878-8818_878-8814delinsAACAG | |
| XR_001754319.2:n.1282-197_1282-193delinsCTGTT (TASP1) |