Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129532361_129532362insTCCTCACCAACTCTCTGCGTGGCATAGCCCTAG , CM000665.2:g.129532361_129532362insTCCTCACCAACTCTCTGCGTGGCATAGCCCTAG | GRCh38 |
| NC_000003.11:g.129251204_129251205insTCCTCACCAACTCTCTGCGTGGCATAGCCCTAG , CM000665.1:g.129251204_129251205insTCCTCACCAACTCTCTGCGTGGCATAGCCCTAG | GRCh37 |
| NC_000003.10:g.130733894_130733895insTCCTCACCAACTCTCTGCGTGGCATAGCCCTAG | NCBI36 |
| NG_009115.1:g.8723_8724insTCCTCACCAACTCTCTGCGTGGCATAGCCCTAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296271.4:c.641_642insTCCTCACCAACTCTCTGCGTGGCATAGCCCTAG MANE Select | ENSP00000296271.3:p.Ile214_Pro215insProHisGlnLeuSerAlaTrpHisS... | |
| ENST00000296271.3:c.641_642insTCCTCACCAACTCTCTGCGTGGCATAGCCCTAG | ENSP00000296271.3:p.Ile214_Pro215insProHisGlnLeuSerAlaTrpHisS... | |
| NM_000539.3:c.641_642insTCCTCACCAACTCTCTGCGTGGCATAGCCCTAG MANE Select | NP_000530.1:p.Ile214_Pro215insProHisGlnLeuSerAlaTrpHisSerProS... |