Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57450175_57450178delinsTGAA , CM000674.2:g.57450175_57450178delinsTGAA | GRCh38 |
| NC_000012.11:g.57843958_57843961delinsTGAA , CM000674.1:g.57843958_57843961delinsTGAA | GRCh37 |
| NC_000012.10:g.56130225_56130228delinsTGAA | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309668.3:c.*153_*156delinsTGAA MANE Select | ENSP00000308716.2:n.*153_*156delinsTGAA | |
| ENST00000309668.2:c.*153_*156delinsTGAA | ENSP00000308716.2:n.*153_*156delinsTGAA | |
| NM_005538.3:c.*153_*156delinsTGAA | NP_005529.1:n.*153_*156delinsTGAA | |
| NM_005538.4:c.*153_*156delinsTGAA MANE Select | NP_005529.1:n.*153_*156delinsTGAA |