Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.108875077_108875079delinsTTG , CM000663.2:g.108875077_108875079delinsTTG | GRCh38 |
| NC_000001.10:g.109417699_109417701delinsTTG , CM000663.1:g.109417699_109417701delinsTTG | GRCh37 |
| NC_000001.9:g.109219222_109219224delinsTTG | NCBI36 |
| NG_028108.1:g.3097_3099delinsTTG | |
| NG_028108.2:g.4728_4730delinsTTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357393.6:c.1-25503_1-25501delinsCAA | ENSP00000349968.6:n.1-25503_1-25501delinsCAA | |
| ENST00000357393.5:c.115-25503_115-25501delinsCAA | ENSP00000349968.5:n.115-25503_115-25501delinsCAA | |
| XR_001738178.1:n.103+61_103+63delinsCAA |