Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41584067_41584070delinsCTCT , CM000679.2:g.41584067_41584070delinsCTCT | GRCh38 |
| NC_000017.10:g.39740319_39740322delinsCTCT , CM000679.1:g.39740319_39740322delinsCTCT | GRCh37 |
| NC_000017.9:g.36993845_36993848delinsCTCT | NCBI36 |
| NG_008624.1:g.7826_7829delinsAGAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.766-149_766-146delinsAGAG MANE Select | ENSP00000167586.6:n.766-149_766-146delinsAGAG | |
| ENST00000167586.6:c.766-149_766-146delinsAGAG | ENSP00000167586.6:n.766-149_766-146delinsAGAG | |
| ENST00000476662.1:n.216-149_216-146delinsAGAG | ||
| NM_000526.4:c.766-149_766-146delinsAGAG | NP_000517.2:n.766-149_766-146delinsAGAG | |
| NM_000526.5:c.766-149_766-146delinsAGAG MANE Select | NP_000517.3:n.766-149_766-146delinsAGAG |