Linked Data
gnomAD v3:
21-45990563-G-GGGATGGGGAGGGATGGGGT
gnomAD v4:
21-45990563-G-GGGATGGGGAGGGATGGGGT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45990566_45990567insTGGGGAGGGATGGGGTGGA , CM000683.2:g.45990566_45990567insTGGGGAGGGATGGGGTGGA | GRCh38 |
| NC_000021.8:g.47410480_47410481insTGGGGAGGGATGGGGTGGA , CM000683.1:g.47410480_47410481insTGGGGAGGGATGGGGTGGA | GRCh37 |
| NC_000021.7:g.46234908_46234909insTGGGGAGGGATGGGGTGGA | NCBI36 |
| NG_008674.1:g.13818_13819insTGGGGAGGGATGGGGTGGA , LRG_475:g.13818_13819insTGGGGAGGGATGGGGTGGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.1002+144_1002+145insTGGGGAGGGATGGGGTGGA MANE Select | ENSP00000355180.3:n.1002+144_1002+145insTGGGGAGGGATGGGGTGGA | |
| ENST00000361866.7:c.1002+144_1002+145insTGGGGAGGGATGGGGTGGA | ENSP00000355180.3:n.1002+144_1002+145insTGGGGAGGGATGGGGTGGA | |
| ENST00000612273.1:c.1002+144_1002+145insTGGGGAGGGATGGGGTGGA | ENSP00000483630.1:n.1002+144_1002+145insTGGGGAGGGATGGGGTGGA | |
| NM_001848.2:c.1002+144_1002+145insTGGGGAGGGATGGGGTGGA , LRG_475t1:c.1002+144_1002+145insTGGGGAGGGATGGGGTGGA | NP_001839.2:n.1002+144_1002+145insTGGGGAGGGATGGGGTGGA | |
| NM_001848.3:c.1002+144_1002+145insTGGGGAGGGATGGGGTGGA MANE Select | NP_001839.2:n.1002+144_1002+145insTGGGGAGGGATGGGGTGGA |