Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74755007_74755025delinsCCTGACCCCCATCTACGGG , CM000677.2:g.74755007_74755025delinsCCTGACCCCCATCTACGGG | GRCh38 |
| NC_000015.9:g.75047348_75047366delinsCCTGACCCCCATCTACGGG , CM000677.1:g.75047348_75047366delinsCCTGACCCCCATCTACGGG | GRCh37 |
| NC_000015.8:g.72834401_72834419delinsCCTGACCCCCATCTACGGG | NCBI36 |
| NG_008431.1:g.37466_37484delinsCCTGACCCCCATCTACGGG | |
| NG_008431.2:g.37466_37484delinsCCTGACCCCCATCTACGGG | |
| NG_061543.1:g.11163_11181delinsCCTGACCCCCATCTACGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343932.5:c.1470_1488delinsCCTGACCCCCATCTACGGG MANE Select | ENSP00000342007.4:p.Asp490= | |
| ENST00000343932.4:c.1470_1488delinsCCTGACCCCCATCTACGGG | ENSP00000342007.4:p.Asp490= | |
| NM_000761.4:c.1470_1488delinsCCTGACCCCCATCTACGGG | NP_000752.2:p.Asp490= | |
| NM_000761.5:c.1470_1488delinsCCTGACCCCCATCTACGGG MANE Select | NP_000752.2:p.Asp490= |