Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10673823_10673826delinsCCTT , CM000682.2:g.10673823_10673826delinsCCTT | GRCh38 |
| NC_000020.10:g.10654471_10654474delinsCCTT , CM000682.1:g.10654471_10654474delinsCCTT | GRCh37 |
| NC_000020.9:g.10602471_10602474delinsCCTT | NCBI36 |
| NG_007496.1:g.5221_5224delinsAAGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.-296_-293delinsAAGG MANE Select | ENSP00000254958.4:n.-296_-293delinsAAGG | |
| ENST00000254958.9:c.-296_-293delinsAAGG | ENSP00000254958.4:n.-296_-293delinsAAGG | |
| NM_000214.2:c.-296_-293delinsAAGG | NP_000205.1:n.-296_-293delinsAAGG | |
| NM_000214.3:c.-296_-293delinsAAGG MANE Select | NP_000205.1:n.-296_-293delinsAAGG |