Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74749876_74749877insCTCTGGTGGACTTTTCAGGCCTTTGG , CM000677.2:g.74749876_74749877insCTCTGGTGGACTTTTCAGGCCTTTGG | GRCh38 |
| NC_000015.9:g.75042217_75042218insCTCTGGTGGACTTTTCAGGCCTTTGG , CM000677.1:g.75042217_75042218insCTCTGGTGGACTTTTCAGGCCTTTGG | GRCh37 |
| NC_000015.8:g.72829270_72829271insCTCTGGTGGACTTTTCAGGCCTTTGG | NCBI36 |
| NG_008431.1:g.32335_32336insCTCTGGTGGACTTTTCAGGCCTTTGG | |
| NG_008431.2:g.32335_32336insCTCTGGTGGACTTTTCAGGCCTTTGG | |
| NG_061543.1:g.6032_6033insCTCTGGTGGACTTTTCAGGCCTTTGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343932.5:c.138_139insCTCTGGTGGACTTTTCAGGCCTTTGG MANE Select | ENSP00000342007.4:p.Gly47LeufsTer18 | |
| ENST00000343932.4:c.138_139insCTCTGGTGGACTTTTCAGGCCTTTGG | ENSP00000342007.4:p.Gly47LeufsTer18 | |
| NM_000761.4:c.138_139insCTCTGGTGGACTTTTCAGGCCTTTGG | NP_000752.2:p.Gly47LeufsTer18 | |
| NM_000761.5:c.138_139insCTCTGGTGGACTTTTCAGGCCTTTGG MANE Select | NP_000752.2:p.Gly47LeufsTer18 |