Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43068121_43068124del , CM000677.2:g.43068121_43068124del | GRCh38 |
| NC_000015.9:g.43360319_43360322del , CM000677.1:g.43360319_43360322del | GRCh37 |
| NC_000015.8:g.41147611_41147614del | NCBI36 |
| NG_012182.1:g.42968_42971del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290650.9:c.660-85_660-82del MANE Select | ENSP00000290650.4:n.660-85_660-82del | |
| ENST00000290650.8:c.660-85_660-82del | ENSP00000290650.4:n.660-85_660-82del | |
| ENST00000546274.6:c.660-85_660-82del | ENSP00000477932.1:n.660-85_660-82del | |
| ENST00000563239.1:c.*202+2778_*202+2781del | ENSP00000456502.1:n.*202+2778_*202+2781del | |
| NM_174916.2:c.660-85_660-82del | NP_777576.1:n.660-85_660-82del | |
| NM_174916.3:c.660-85_660-82del MANE Select | NP_777576.1:n.660-85_660-82del |