gnomAD v4:
Joint Max Group AF
0.00000247 (NFE)
Exomes Max Group AF
0.00000262 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.27095694_27095695insTGGTGG , CM000669.2:g.27095694_27095695insTGGTGG | GRCh38 |
| NC_000007.13:g.27135313_27135314insTGGTGG , CM000669.1:g.27135313_27135314insTGGTGG | GRCh37 |
| NC_000007.12:g.27101838_27101839insTGGTGG | NCBI36 |
| NG_011813.1:g.5317_5318insACCACC | |
| NG_033087.1:g.4601_4602insTGGTGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643460.2:c.223_224insACCACC MANE Select | ENSP00000494260.2:p.His74_Pro75insHisHis | |
| ENST00000343060.4:c.223_224insACCACC | ENSP00000343246.4:p.His74_Pro75insHisHis | |
| ENST00000355633.5:c.223_224insACCACC | ENSP00000347851.5:p.His74_Pro75insHisHis | |
| NM_005522.4:c.223_224insACCACC | NP_005513.1:p.His74_Pro75insHisHis | |
| NM_153620.2:c.223_224insACCACC | NP_705873.2:p.His74_Pro75insHisHis | |
| NM_005522.5:c.223_224insACCACC MANE Select | NP_005513.2:p.His74_Pro75insHisHis | |
| NM_153620.3:c.223_224insACCACC | NP_705873.3:p.His74_Pro75insHisHis |