Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41584050_41584052delinsAAT , CM000679.2:g.41584050_41584052delinsAAT | GRCh38 |
| NC_000017.10:g.39740302_39740304delinsAAT , CM000679.1:g.39740302_39740304delinsAAT | GRCh37 |
| NC_000017.9:g.36993828_36993830delinsAAT | NCBI36 |
| NG_008624.1:g.7844_7846delinsATT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.766-131_766-129delinsATT MANE Select | ENSP00000167586.6:n.766-131_766-129delinsATT | |
| ENST00000167586.6:c.766-131_766-129delinsATT | ENSP00000167586.6:n.766-131_766-129delinsATT | |
| ENST00000476662.1:n.216-131_216-129delinsATT | ||
| NM_000526.4:c.766-131_766-129delinsATT | NP_000517.2:n.766-131_766-129delinsATT | |
| NM_000526.5:c.766-131_766-129delinsATT MANE Select | NP_000517.3:n.766-131_766-129delinsATT |