Linked Data
gnomAD v3:
21-45990465-A-ACGGGGAGGGATGGGGAGGG
gnomAD v4:
21-45990465-A-ACGGGGAGGGATGGGGAGGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45990465_45990466insCGGGGAGGGATGGGGAGGG , CM000683.2:g.45990465_45990466insCGGGGAGGGATGGGGAGGG | GRCh38 |
| NC_000021.8:g.47410379_47410380insCGGGGAGGGATGGGGAGGG , CM000683.1:g.47410379_47410380insCGGGGAGGGATGGGGAGGG | GRCh37 |
| NC_000021.7:g.46234807_46234808insCGGGGAGGGATGGGGAGGG | NCBI36 |
| NG_008674.1:g.13717_13718insCGGGGAGGGATGGGGAGGG , LRG_475:g.13717_13718insCGGGGAGGGATGGGGAGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.1002+43_1002+44insCGGGGAGGGATGGGGAGGG MANE Select | ENSP00000355180.3:n.1002+43_1002+44insCGGGGAGGGATGGGGAGGG | |
| ENST00000361866.7:c.1002+43_1002+44insCGGGGAGGGATGGGGAGGG | ENSP00000355180.3:n.1002+43_1002+44insCGGGGAGGGATGGGGAGGG | |
| ENST00000612273.1:c.1002+43_1002+44insCGGGGAGGGATGGGGAGGG | ENSP00000483630.1:n.1002+43_1002+44insCGGGGAGGGATGGGGAGGG | |
| NM_001848.2:c.1002+43_1002+44insCGGGGAGGGATGGGGAGGG , LRG_475t1:c.1002+43_1002+44insCGGGGAGGGATGGGGAGGG | NP_001839.2:n.1002+43_1002+44insCGGGGAGGGATGGGGAGGG | |
| NM_001848.3:c.1002+43_1002+44insCGGGGAGGGATGGGGAGGG MANE Select | NP_001839.2:n.1002+43_1002+44insCGGGGAGGGATGGGGAGGG |