Linked Data
ClinVar Variation Id:
1975814
ClinVar RCV Id:
RCV002755877
dbSNP Id:
rs1569518212
gnomAD v2:
21-47410340-ACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGAC-A
gnomAD v3:
21-45990426-ACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGAC-A
gnomAD v4:
21-45990426-ACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGAC-A
MyVariant Identifiers:
chr21:g.47410341_47410424del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45990428_45990511del , CM000683.2:g.45990428_45990511del | GRCh38 |
| NC_000021.8:g.47410342_47410425del , CM000683.1:g.47410342_47410425del | GRCh37 |
| NC_000021.7:g.46234770_46234853del | NCBI36 |
| NG_008674.1:g.13680_13763del , LRG_475:g.13680_13763del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.1002+6_1002+89del MANE Select | ENSP00000355180.3:n.1002+6_1002+89del | |
| ENST00000361866.7:c.1002+6_1002+89del | ENSP00000355180.3:n.1002+6_1002+89del | |
| ENST00000612273.1:c.1002+6_1002+89del | ENSP00000483630.1:n.1002+6_1002+89del | |
| NM_001848.2:c.1002+6_1002+89del , LRG_475t1:c.1002+6_1002+89del | NP_001839.2:n.1002+6_1002+89del | |
| NM_001848.3:c.1002+6_1002+89del MANE Select | NP_001839.2:n.1002+6_1002+89del |