Linked Data
dbSNP Id:
rs2123472306
gnomAD v2:
21-47410371-C-CGGG
gnomAD v4:
21-45990457-C-CGGG
MyVariant Identifiers:
chr21:g.47410373_47410391delinsGGGAGGAGGAATGGGGCGAGAT (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45990458_45990459insGGG , CM000683.2:g.45990458_45990459insGGG | GRCh38 |
| NC_000021.8:g.47410372_47410373insGGG , CM000683.1:g.47410372_47410373insGGG | GRCh37 |
| NC_000021.7:g.46234800_46234801insGGG | NCBI36 |
| NG_008674.1:g.13710_13711insGGG , LRG_475:g.13710_13711insGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.1002+36_1002+37insGGG MANE Select | ENSP00000355180.3:n.1002+36_1002+37insGGG | |
| ENST00000361866.7:c.1002+36_1002+37insGGG | ENSP00000355180.3:n.1002+36_1002+37insGGG | |
| ENST00000612273.1:c.1002+36_1002+37insGGG | ENSP00000483630.1:n.1002+36_1002+37insGGG | |
| NM_001848.2:c.1002+36_1002+37insGGG , LRG_475t1:c.1002+36_1002+37insGGG | NP_001839.2:n.1002+36_1002+37insGGG | |
| NM_001848.3:c.1002+36_1002+37insGGG MANE Select | NP_001839.2:n.1002+36_1002+37insGGG |