Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41584645_41584652delinsACTTCTAG , CM000679.2:g.41584645_41584652delinsACTTCTAG | GRCh38 |
| NC_000017.10:g.39740897_39740904delinsACTTCTAG , CM000679.1:g.39740897_39740904delinsACTTCTAG | GRCh37 |
| NC_000017.9:g.36994423_36994430delinsACTTCTAG | NCBI36 |
| NG_008624.1:g.7244_7251delinsCTAGAAGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.609-239_609-232delinsCTAGAAGT MANE Select | ENSP00000167586.6:n.609-239_609-232delinsCTAGAAGT | |
| ENST00000167586.6:c.609-239_609-232delinsCTAGAAGT | ENSP00000167586.6:n.609-239_609-232delinsCTAGAAGT | |
| NM_000526.4:c.609-239_609-232delinsCTAGAAGT | NP_000517.2:n.609-239_609-232delinsCTAGAAGT | |
| NM_000526.5:c.609-239_609-232delinsCTAGAAGT MANE Select | NP_000517.3:n.609-239_609-232delinsCTAGAAGT |