Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.13316182_13316183insTTGGTAAGTTGTGTTTTCATTTTCATTTA , CM000682.2:g.13316182_13316183insTTGGTAAGTTGTGTTTTCATTTTCATTTA | GRCh38 |
| NC_000020.10:g.13296829_13296830insTTGGTAAGTTGTGTTTTCATTTTCATTTA , CM000682.1:g.13296829_13296830insTTGGTAAGTTGTGTTTTCATTTTCATTTA | GRCh37 |
| NC_000020.9:g.13244829_13244830insTTGGTAAGTTGTGTTTTCATTTTCATTTA | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_937280.1:n.601-128_601-127insTAAATGAAAATGAAAACACAACTTACCAA | ||
| XM_017027680.1:c.878-8884_878-8883insTTGGTAAGTTGTGTTTTCATTTTCATTTA (ISM1) | XP_016883169.1:n.878-8884_878-8883insTTGG... | |
| XR_001754319.2:n.1282-128_1282-127insTAAATGAAAATGAAAACACAACTTACCAA (TASP1) |