Linked Data
dbSNP Id:
rs779167430
gnomAD v2:
21-47410385-G-GTGGA
gnomAD v3:
21-45990471-G-GTGGA
gnomAD v4:
21-45990471-G-GTGGA
MyVariant Identifiers:
chr21:g.47410385_47410386insTGGA (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45990471_45990472insTGGA , CM000683.2:g.45990471_45990472insTGGA | GRCh38 |
| NC_000021.8:g.47410385_47410386insTGGA , CM000683.1:g.47410385_47410386insTGGA | GRCh37 |
| NC_000021.7:g.46234813_46234814insTGGA | NCBI36 |
| NG_008674.1:g.13723_13724insTGGA , LRG_475:g.13723_13724insTGGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.1002+49_1002+50insTGGA MANE Select | ENSP00000355180.3:n.1002+49_1002+50insTGGA | |
| ENST00000361866.7:c.1002+49_1002+50insTGGA | ENSP00000355180.3:n.1002+49_1002+50insTGGA | |
| ENST00000612273.1:c.1002+49_1002+50insTGGA | ENSP00000483630.1:n.1002+49_1002+50insTGGA | |
| NM_001848.2:c.1002+49_1002+50insTGGA , LRG_475t1:c.1002+49_1002+50insTGGA | NP_001839.2:n.1002+49_1002+50insTGGA | |
| NM_001848.3:c.1002+49_1002+50insTGGA MANE Select | NP_001839.2:n.1002+49_1002+50insTGGA |