Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6319078_6319081delinsCCTT , CM000673.2:g.6319078_6319081delinsCCTT | GRCh38 |
| NC_000011.9:g.6340308_6340311delinsCCTT , CM000673.1:g.6340308_6340311delinsCCTT | GRCh37 |
| NC_000011.8:g.6296884_6296887delinsCCTT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303927.4:c.*82_*85delinsAAGG MANE Select | ENSP00000307292.3:n.*82_*85delinsAAGG | |
| ENST00000303927.3:c.*82_*85delinsAAGG | ENSP00000307292.3:n.*82_*85delinsAAGG | |
| ENST00000532354.1:n.890_893delinsAAGG | ||
| NM_145040.2:c.*82_*85delinsAAGG | NP_659477.2:n.*82_*85delinsAAGG | |
| XR_930997.1:n.720+858_720+861delinsCCTT | ||
| NM_145040.3:c.*82_*85delinsAAGG MANE Select | NP_659477.2:n.*82_*85delinsAAGG |