Linked Data
dbSNP Id:
rs2077770430
gnomAD v2:
21-47410459-CCAGGGGAAGGA-C
gnomAD v3:
21-45990545-CCAGGGGAAGGA-C
gnomAD v4:
21-45990545-CCAGGGGAAGGA-C
MyVariant Identifiers:
chr21:g.47410461_47410480delinsGGGGAGGGA (hg19)
chr21:g.45990547_45990566delinsGGGGAGGGA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45990547_45990557del , CM000683.2:g.45990547_45990557del | GRCh38 |
| NC_000021.8:g.47410461_47410471del , CM000683.1:g.47410461_47410471del | GRCh37 |
| NC_000021.7:g.46234889_46234899del | NCBI36 |
| NG_008674.1:g.13799_13809del , LRG_475:g.13799_13809del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.1002+125_1002+135del MANE Select | ENSP00000355180.3:n.1002+125_1002+135del | |
| ENST00000361866.7:c.1002+125_1002+135del | ENSP00000355180.3:n.1002+125_1002+135del | |
| ENST00000612273.1:c.1002+125_1002+135del | ENSP00000483630.1:n.1002+125_1002+135del | |
| NM_001848.2:c.1002+125_1002+135del , LRG_475t1:c.1002+125_1002+135del | NP_001839.2:n.1002+125_1002+135del | |
| NM_001848.3:c.1002+125_1002+135del MANE Select | NP_001839.2:n.1002+125_1002+135del |