Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73322425_73322429delinsTGAAG , CM000677.2:g.73322425_73322429delinsTGAAG | GRCh38 |
| NC_000015.9:g.73614766_73614770delinsTGAAG , CM000677.1:g.73614766_73614770delinsTGAAG | GRCh37 |
| NC_000015.8:g.71401819_71401823delinsTGAAG | NCBI36 |
| NG_009063.1:g.51836_51840delinsCTTCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.*52_*56delinsCTTCA MANE Select | ENSP00000261917.3:n.*52_*56delinsCTTCA | |
| ENST00000261917.3:c.*52_*56delinsCTTCA | ENSP00000261917.3:n.*52_*56delinsCTTCA | |
| NM_005477.2:c.*52_*56delinsCTTCA | NP_005468.1:n.*52_*56delinsCTTCA | |
| XM_011521148.1:c.*52_*56delinsCTTCA | XP_011519450.1:n.*52_*56delinsCTTCA | |
| XM_011521148.2:c.*52_*56delinsCTTCA | XP_011519450.1:n.*52_*56delinsCTTCA | |
| NM_005477.3:c.*52_*56delinsCTTCA MANE Select | NP_005468.1:n.*52_*56delinsCTTCA |