Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7668230_7668234delinsCCCTT , CM000679.2:g.7668230_7668234delinsCCCTT | GRCh38 |
| NC_000017.10:g.7571548_7571552delinsCCCTT , CM000679.1:g.7571548_7571552delinsCCCTT | GRCh37 |
| NC_000017.9:g.7512273_7512277delinsCCCTT | NCBI36 |
| NG_017013.2:g.24317_24321delinsAAGGG , LRG_321:g.24317_24321delinsAAGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359597.8:c.994-1990_994-1986delinsAAGGG | ENSP00000352610.4:n.994-1990_994-1986delinsAAGGG | |
| ENST00000413465.6:c.782+5947_782+5951delinsAAGGG | ENSP00000410739.2:n.782+5947_782+5951delinsAAGGG | |
| ENST00000635293.1:c.984-809_984-805delinsAAGGG | ENSP00000488924.1:n.984-809_984-805delinsAAGGG |