Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583076_41583079delinsAGAG , CM000679.2:g.41583076_41583079delinsAGAG | GRCh38 |
| NC_000017.10:g.39739328_39739331delinsAGAG , CM000679.1:g.39739328_39739331delinsAGAG | GRCh37 |
| NC_000017.9:g.36992854_36992857delinsAGAG | NCBI36 |
| NG_008624.1:g.8817_8820delinsCTCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.1321+15_1321+18delinsCTCT MANE Select | ENSP00000167586.6:n.1321+15_1321+18delinsCTCT | |
| ENST00000167586.6:c.1321+15_1321+18delinsCTCT | ENSP00000167586.6:n.1321+15_1321+18delinsCTCT | |
| ENST00000441550.2:n.283_286delinsCTCT | ||
| NM_000526.4:c.1321+15_1321+18delinsCTCT | NP_000517.2:n.1321+15_1321+18delinsCTCT | |
| NM_000526.5:c.1321+15_1321+18delinsCTCT MANE Select | NP_000517.3:n.1321+15_1321+18delinsCTCT |