Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35880716_35880718delinsCTT , CM000679.2:g.35880716_35880718delinsCTT | GRCh38 |
| NC_000017.9:g.31231833_31231835delinsCTT | NCBI36 |
| NG_015990.1:g.4656_4658delinsAAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000605509.2:c.-18+11_-18+13delinsAAG | ENSP00000474141.2:n.-18+11_-18+13delinsAAG | |
| ENST00000605140.5:c.-18+11_-18+13delinsAAG | ENSP00000475057.1:n.-18+11_-18+13delinsAAG | |
| XR_934696.1:n.197-3666_197-3664delinsCTT | ||
| XR_934697.1:n.200-3666_200-3664delinsCTT | ||
| XR_001752852.1:n.426+642_426+644delinsCTT | ||
| XR_934696.2:n.91-3666_91-3664delinsCTT | ||
| XR_934697.2:n.91-3666_91-3664delinsCTT |