Linked Data
dbSNP Id:
rs779167430
ExAC:
21:47410385 G / GAGGGA
MyVariant Identifiers:
chr21:g.47410385_47410386insAGGGA (hg19)
chr21:g.45990471_45990472insAGGGA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45990471_45990472insAGGGA , CM000683.2:g.45990471_45990472insAGGGA | GRCh38 |
| NC_000021.8:g.47410385_47410386insAGGGA , CM000683.1:g.47410385_47410386insAGGGA | GRCh37 |
| NC_000021.7:g.46234813_46234814insAGGGA | NCBI36 |
| NG_008674.1:g.13723_13724insAGGGA , LRG_475:g.13723_13724insAGGGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.1002+49_1002+50insAGGGA MANE Select | ENSP00000355180.3:n.1002+49_1002+50insAGGGA | |
| ENST00000361866.7:c.1002+49_1002+50insAGGGA | ENSP00000355180.3:n.1002+49_1002+50insAGGGA | |
| ENST00000612273.1:c.1002+49_1002+50insAGGGA | ENSP00000483630.1:n.1002+49_1002+50insAGGGA | |
| NM_001848.2:c.1002+49_1002+50insAGGGA , LRG_475t1:c.1002+49_1002+50insAGGGA | NP_001839.2:n.1002+49_1002+50insAGGGA | |
| NM_001848.3:c.1002+49_1002+50insAGGGA MANE Select | NP_001839.2:n.1002+49_1002+50insAGGGA |