Linked Data
dbSNP Id:
rs1783807683
gnomAD v3:
7-27095697-A-ATGGTGATGG
gnomAD v4:
7-27095697-A-ATGGTGATGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.27095702_27095703insATGGTGGTG , CM000669.2:g.27095702_27095703insATGGTGGTG | GRCh38 |
| NC_000007.13:g.27135321_27135322insATGGTGGTG , CM000669.1:g.27135321_27135322insATGGTGGTG | GRCh37 |
| NC_000007.12:g.27101846_27101847insATGGTGGTG | NCBI36 |
| NG_011813.1:g.5309_5310insCCATCACCA | |
| NG_033087.1:g.4609_4610insATGGTGGTG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000643460.2:c.215_216insCCATCACCA MANE Select | ENSP00000494260.2:p.His72_Arg73insHisHisH... | |
| ENST00000343060.4:c.215_216insCCATCACCA | ENSP00000343246.4:p.His72_Arg73insHisHisH... | |
| ENST00000355633.5:c.215_216insCCATCACCA | ENSP00000347851.5:p.His72_Arg73insHisHisH... | |
| NM_005522.4:c.215_216insCCATCACCA | NP_005513.1:p.His72_His73insHisHisHis | |
| NM_153620.2:c.215_216insCCATCACCA | NP_705873.2:p.His72_His73insHisHisHis | |
| NM_005522.5:c.215_216insCCATCACCA MANE Select | NP_005513.2:p.His72_Arg73insHisHisHis | |
| NM_153620.3:c.215_216insCCATCACCA | NP_705873.3:p.His72_Arg73insHisHisHis |