Linked Data
dbSNP Id:
rs1569518229
gnomAD v2:
21-47410373-AGGAGGAATGGGGCGAGATGG-A
gnomAD v3:
21-45990459-AGGAGGAATGGGGCGAGATGG-A
gnomAD v4:
21-45990459-AGGAGGAATGGGGCGAGATGG-A
MyVariant Identifiers:
chr21:g.47410374_47410393del (hg19)
chr21:g.47410379_47410473delinsGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGG (hg19)
chr21:g.45990461_45990480del (hg38)
chr21:g.45990465_45990559delinsGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45990465_45990484del , CM000683.2:g.45990465_45990484del | GRCh38 |
| NC_000021.8:g.47410379_47410398del , CM000683.1:g.47410379_47410398del | GRCh37 |
| NC_000021.7:g.46234807_46234826del | NCBI36 |
| NG_008674.1:g.13717_13736del , LRG_475:g.13717_13736del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.1002+43_1002+62del MANE Select | ENSP00000355180.3:n.1002+43_1002+62del | |
| ENST00000361866.7:c.1002+43_1002+62del | ENSP00000355180.3:n.1002+43_1002+62del | |
| ENST00000612273.1:c.1002+43_1002+62del | ENSP00000483630.1:n.1002+43_1002+62del | |
| NM_001848.2:c.1002+43_1002+62del , LRG_475t1:c.1002+43_1002+62del | NP_001839.2:n.1002+43_1002+62del | |
| NM_001848.3:c.1002+43_1002+62del MANE Select | NP_001839.2:n.1002+43_1002+62del |