Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41584064_41584069delinsTCTCTC , CM000679.2:g.41584064_41584069delinsTCTCTC | GRCh38 |
| NC_000017.10:g.39740316_39740321delinsTCTCTC , CM000679.1:g.39740316_39740321delinsTCTCTC | GRCh37 |
| NC_000017.9:g.36993842_36993847delinsTCTCTC | NCBI36 |
| NG_008624.1:g.7827_7832delinsGAGAGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.766-148_766-143delinsGAGAGA MANE Select | ENSP00000167586.6:n.766-148_766-143delinsGAGAGA | |
| ENST00000167586.6:c.766-148_766-143delinsGAGAGA | ENSP00000167586.6:n.766-148_766-143delinsGAGAGA | |
| ENST00000476662.1:n.216-148_216-143delinsGAGAGA | ||
| NM_000526.4:c.766-148_766-143delinsGAGAGA | NP_000517.2:n.766-148_766-143delinsGAGAGA | |
| NM_000526.5:c.766-148_766-143delinsGAGAGA MANE Select | NP_000517.3:n.766-148_766-143delinsGAGAGA |