gnomAD v4:
Joint Max Group AF
0.0000013 (NFE)
Exomes Max Group AF
0.00000143 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.27095705_27095706insATGGTGGTGGTGGTGGTG , CM000669.2:g.27095705_27095706insATGGTGGTGGTGGTGGTG | GRCh38 |
| NC_000007.13:g.27135324_27135325insATGGTGGTGGTGGTGGTG , CM000669.1:g.27135324_27135325insATGGTGGTGGTGGTGGTG | GRCh37 |
| NC_000007.12:g.27101849_27101850insATGGTGGTGGTGGTGGTG | NCBI36 |
| NG_011813.1:g.5309_5310insCCACCACCATCACCACCA | |
| NG_033087.1:g.4612_4613insATGGTGGTGGTGGTGGTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643460.2:c.215_216insCCACCACCATCACCACCA MANE Select | ENSP00000494260.2:p.His72_Arg73insHisHisHisHisHisHis | |
| ENST00000343060.4:c.215_216insCCACCACCATCACCACCA | ENSP00000343246.4:p.His72_Arg73insHisHisHisHisHisHis | |
| ENST00000355633.5:c.215_216insCCACCACCATCACCACCA | ENSP00000347851.5:p.His72_Arg73insHisHisHisHisHisHis | |
| NM_005522.4:c.215_216insCCACCACCATCACCACCA | NP_005513.1:p.His72_His73insHisHisHisHisHisHis | |
| NM_153620.2:c.215_216insCCACCACCATCACCACCA | NP_705873.2:p.His72_His73insHisHisHisHisHisHis | |
| NM_005522.5:c.215_216insCCACCACCATCACCACCA MANE Select | NP_005513.2:p.His72_Arg73insHisHisHisHisHisHis | |
| NM_153620.3:c.215_216insCCACCACCATCACCACCA | NP_705873.3:p.His72_Arg73insHisHisHisHisHisHis |