Linked Data
dbSNP Id:
rs756336607
ExAC:
21:47410349 A / AGAT
gnomAD v2:
21-47410349-A-AGAT
gnomAD v3:
21-45990435-A-AGAT
gnomAD v4:
21-45990435-A-AGAT
MyVariant Identifiers:
chr21:g.47410349_47410350insGAT (hg19)
chr21:g.45990435_45990436insGAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45990436_45990438dup , CM000683.2:g.45990436_45990438dup | GRCh38 |
| NC_000021.8:g.47410350_47410352dup , CM000683.1:g.47410350_47410352dup | GRCh37 |
| NC_000021.7:g.46234778_46234780dup | NCBI36 |
| NG_008674.1:g.13688_13690dup , LRG_475:g.13688_13690dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.1002+14_1002+16dup MANE Select | ENSP00000355180.3:n.1002+14_1002+16dup | |
| ENST00000361866.7:c.1002+14_1002+16dup | ENSP00000355180.3:n.1002+14_1002+16dup | |
| ENST00000612273.1:c.1002+14_1002+16dup | ENSP00000483630.1:n.1002+14_1002+16dup | |
| NM_001848.2:c.1002+14_1002+16dup , LRG_475t1:c.1002+14_1002+16dup | NP_001839.2:n.1002+14_1002+16dup | |
| NM_001848.3:c.1002+14_1002+16dup MANE Select | NP_001839.2:n.1002+14_1002+16dup |