Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65964349_65964350insCCATT , CM000674.2:g.65964349_65964350insCCATT | GRCh38 |
| NC_000012.11:g.66358129_66358130insCCATT , CM000674.1:g.66358129_66358130insCCATT | GRCh37 |
| NC_000012.10:g.64644396_64644397insCCATT | NCBI36 |
| NG_016296.1:g.144890_144891insCCATT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403681.7:c.*1057_*1058insCCATT MANE Select | ENSP00000384026.2:n.*1057_*1058insCCATT | |
| ENST00000403681.6:c.*1057_*1058insCCATT | ENSP00000384026.2:n.*1057_*1058insCCATT | |
| NM_003483.4:c.*1057_*1058insCCATT | NP_003474.1:n.*1057_*1058insCCATT | |
| NM_003483.6:c.*1057_*1058insCCATT MANE Select | NP_003474.1:n.*1057_*1058insCCATT |