Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74755129_74755143delinsCCAGCCACGGGGACT , CM000677.2:g.74755129_74755143delinsCCAGCCACGGGGACT | GRCh38 |
| NC_000015.9:g.75047470_75047484delinsCCAGCCACGGGGACT , CM000677.1:g.75047470_75047484delinsCCAGCCACGGGGACT | GRCh37 |
| NC_000015.8:g.72834523_72834537delinsCCAGCCACGGGGACT | NCBI36 |
| NG_008431.1:g.37588_37602delinsCCAGCCACGGGGACT | |
| NG_008431.2:g.37588_37602delinsCCAGCCACGGGGACT | |
| NG_061543.1:g.11285_11299delinsCCAGCCACGGGGACT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343932.5:c.*41_*55delinsCCAGCCACGGGGACT MANE Select | ENSP00000342007.4:n.*41_*55delinsCCAGCCACGGGGACT | |
| ENST00000343932.4:c.*41_*55delinsCCAGCCACGGGGACT | ENSP00000342007.4:n.*41_*55delinsCCAGCCACGGGGACT | |
| NM_000761.4:c.*41_*55delinsCCAGCCACGGGGACT | NP_000752.2:n.*41_*55delinsCCAGCCACGGGGACT | |
| NM_000761.5:c.*41_*55delinsCCAGCCACGGGGACT MANE Select | NP_000752.2:n.*41_*55delinsCCAGCCACGGGGACT |