Linked Data
gnomAD v2:
21-45709688-A-AGGCTG
MyVariant Identifiers:
chr21:g.45709688_45709689insGGCTG (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44289805_44289806insGGCTG , CM000683.2:g.44289805_44289806insGGCTG | GRCh38 |
| NC_000021.8:g.45709688_45709689insGGCTG , CM000683.1:g.45709688_45709689insGGCTG | GRCh37 |
| NC_000021.7:g.44534116_44534117insGGCTG | NCBI36 |
| NG_009556.1:g.8926_8927insGGCTG , LRG_18:g.8926_8927insGGCTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.798+3_798+4insGGCTG MANE Select | ENSP00000291582.5:n.798+3_798+4insGGCTG | |
| ENST00000291582.5:c.798+3_798+4insGGCTG | ENSP00000291582.5:n.798+3_798+4insGGCTG | |
| ENST00000527919.5:n.1531+3_1531+4insGGCTG | ||
| ENST00000530812.5:n.2548+3_2548+4insGGCTG | ||
| NM_000383.3:c.798+3_798+4insGGCTG | NP_000374.1:n.798+3_798+4insGGCTG | |
| XM_011529551.1:c.798+3_798+4insGGCTG | XP_011527853.1:n.798+3_798+4insGGCTG | |
| NM_000383.4:c.798+3_798+4insGGCTG MANE Select | NP_000374.1:n.798+3_798+4insGGCTG |