Linked Data
dbSNP Id:
rs1569518217
gnomAD v2:
21-47410353-A-AGGATGGACGG
gnomAD v4:
21-45990439-A-AGGATGGACGG
MyVariant Identifiers:
chr21:g.47410353_47410354insGGATGGACGG (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45990443_45990452dup , CM000683.2:g.45990443_45990452dup | GRCh38 |
| NC_000021.8:g.47410357_47410366dup , CM000683.1:g.47410357_47410366dup | GRCh37 |
| NC_000021.7:g.46234785_46234794dup | NCBI36 |
| NG_008674.1:g.13695_13704dup , LRG_475:g.13695_13704dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.1002+21_1002+30dup MANE Select | ENSP00000355180.3:n.1002+21_1002+30dup | |
| ENST00000361866.7:c.1002+21_1002+30dup | ENSP00000355180.3:n.1002+21_1002+30dup | |
| ENST00000612273.1:c.1002+21_1002+30dup | ENSP00000483630.1:n.1002+21_1002+30dup | |
| NM_001848.2:c.1002+21_1002+30dup , LRG_475t1:c.1002+21_1002+30dup | NP_001839.2:n.1002+21_1002+30dup | |
| NM_001848.3:c.1002+21_1002+30dup MANE Select | NP_001839.2:n.1002+21_1002+30dup |