Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583259_41583269delinsCGGCGGTAGGT , CM000679.2:g.41583259_41583269delinsCGGCGGTAGGT | GRCh38 |
| NC_000017.10:g.39739511_39739521delinsCGGCGGTAGGT , CM000679.1:g.39739511_39739521delinsCGGCGGTAGGT | GRCh37 |
| NC_000017.9:g.36993037_36993047delinsCGGCGGTAGGT | NCBI36 |
| NG_008624.1:g.8627_8637delinsACCTACCGCCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.1240_1250delinsACCTACCGCCG MANE Select | ENSP00000167586.6:p.Thr414= | |
| ENST00000167586.6:c.1240_1250delinsACCTACCGCCG | ENSP00000167586.6:p.Thr414= | |
| ENST00000441550.2:n.187_197delinsACCTACCGCCG | ||
| ENST00000476662.1:n.690_700delinsACCTACCGCCG | ||
| NM_000526.4:c.1240_1250delinsACCTACCGCCG | NP_000517.2:p.Thr414= | |
| NM_000526.5:c.1240_1250delinsACCTACCGCCG MANE Select | NP_000517.3:p.Thr414= |