Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41586852_41586856delinsTGAGC , CM000679.2:g.41586852_41586856delinsTGAGC | GRCh38 |
| NC_000017.10:g.39743104_39743108delinsTGAGC , CM000679.1:g.39743104_39743108delinsTGAGC | GRCh37 |
| NC_000017.9:g.36996630_36996634delinsTGAGC | NCBI36 |
| NG_008624.1:g.5040_5044delinsGCTCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.-22_-18delinsGCTCA MANE Select | ENSP00000167586.6:n.-22_-18delinsGCTCA | |
| ENST00000167586.6:c.-22_-18delinsGCTCA | ENSP00000167586.6:n.-22_-18delinsGCTCA | |
| NM_000526.4:c.-22_-18delinsGCTCA | NP_000517.2:n.-22_-18delinsGCTCA | |
| NM_000526.5:c.-22_-18delinsGCTCA MANE Select | NP_000517.3:n.-22_-18delinsGCTCA |