Linked Data
ClinVar Variation Id:
303589
dbSNP Id:
rs886047990
MyVariant Identifiers:
chr11:g.128761326_128761336delinsGAGAGAG (hg19)
chr11:g.128891431_128891441delinsGAGAGAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128891431_128891441delinsGAGAGAG , CM000673.2:g.128891431_128891441delinsGAGAGAG | GRCh38 |
| NC_000011.9:g.128761326_128761336delinsGAGAGAG , CM000673.1:g.128761326_128761336delinsGAGAGAG | GRCh37 |
| NC_000011.8:g.128266536_128266546delinsGAGAGAG | NCBI36 |
| NG_023406.2:g.5014_5024delinsGAGAGAG , LRG_333:g.5014_5024delinsGAGAGAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529694.6:c.-301_-291delinsGAGAGAG MANE Select | ENSP00000433295.1:n.-301_-291delinsGAGAGAG | |
| ENST00000529694.5:c.-301_-291delinsGAGAGAG | ENSP00000433295.1:n.-301_-291delinsGAGAGAG | |
| NM_000890.3:c.-301_-291delinsGAGAGAG , LRG_333t1:c.-301_-291delinsGAGAGAG | NP_000881.3:n.-301_-291delinsGAGAGAG | |
| NM_000890.4:c.-301_-291delinsGAGAGAG | NP_000881.3:n.-301_-291delinsGAGAGAG | |
| NM_001354169.1:c.-390_-380delinsGAGAGAG | NP_001341098.1:n.-390_-380delinsGAGAGAG | |
| NM_000890.5:c.-301_-291delinsGAGAGAG MANE Select | NP_000881.3:n.-301_-291delinsGAGAGAG | |
| NM_001354169.2:c.-390_-380delinsGAGAGAG | NP_001341098.1:n.-390_-380delinsGAGAGAG |