Linked Data
dbSNP Id:
rs1349995283
gnomAD v4:
21-43094659-T-TCTCATA
MyVariant Identifiers:
chr21:g.43094659_43094660insCTCATA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43094662_43094667dup , CM000683.2:g.43094662_43094667dup | GRCh38 |
| NG_029455.1:g.17914_17919dup , LRG_615:g.17914_17919dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291552.9:c.472_477dup MANE Select | ENSP00000291552.4:p.Glu159_Met160insTyrGlu | |
| ENST00000291552.8:c.472_477dup | ENSP00000291552.4:p.Glu159_Met160insTyrGlu | |
| ENST00000380276.6:c.472_477dup | ENSP00000369629.2:p.Glu159_Met160insTyrGlu | |
| ENST00000398137.5:c.253_258dup | ENSP00000381205.1:p.Glu86_Met87insTyrGlu | |
| ENST00000459639.5:c.253_258dup | ENSP00000418705.1:p.Glu86_Met87insTyrGlu | |
| ENST00000464750.5:c.*311_*316dup | ENSP00000420672.1:n.*311_*316dup | |
| ENST00000471250.5:n.1279_1284dup | ||
| ENST00000475639.5:n.4297_4302dup | ||
| ENST00000478282.1:n.1726_1731dup | ||
| ENST00000486519.5:n.519_524dup | ||
| NM_001025203.1:c.472_477dup , LRG_615t1:c.472_477dup | NP_001020374.1:p.Glu159_Met160insTyrGlu | |
| NM_001025204.1:c.253_258dup | NP_001020375.1:p.Glu86_Met87insTyrGlu | |
| NM_006758.2:c.472_477dup , LRG_615t2:c.472_477dup | NP_006749.1:p.Glu159_Met160insTyrGlu | |
| XM_011529743.1:c.373_378dup | XP_011528045.1:p.Glu126_Met127insTyrGlu | |
| XM_011529743.3:c.373_378dup | XP_011528045.1:p.Glu126_Met127insTyrGlu | |
| XM_017028468.2:c.373_378dup | XP_016883957.1:p.Glu126_Met127insTyrGlu | |
| XM_024452129.1:c.253_258dup | XP_024307897.1:p.Glu86_Met87insTyrGlu | |
| XM_024452130.1:c.253_258dup | XP_024307898.1:p.Glu86_Met87insTyrGlu | |
| XM_024452131.1:c.253_258dup | XP_024307899.1:p.Glu86_Met87insTyrGlu | |
| NM_001025204.2:c.253_258dup | NP_001020375.1:p.Glu86_Met87insTyrGlu | |
| NM_006758.3:c.472_477dup MANE Select | NP_006749.1:p.Glu159_Met160insTyrGlu |