Linked Data
ClinVar Variation Id:
303581
dbSNP Id:
rs886047987
MyVariant Identifiers:
chr11:g.128761322_128761336delinsGAGAG (hg19)
chr11:g.128891427_128891441delinsGAGAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128891427_128891441delinsGAGAG , CM000673.2:g.128891427_128891441delinsGAGAG | GRCh38 |
| NC_000011.9:g.128761322_128761336delinsGAGAG , CM000673.1:g.128761322_128761336delinsGAGAG | GRCh37 |
| NC_000011.8:g.128266532_128266546delinsGAGAG | NCBI36 |
| NG_023406.2:g.5010_5024delinsGAGAG , LRG_333:g.5010_5024delinsGAGAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529694.6:c.-305_-291delinsGAGAG MANE Select | ENSP00000433295.1:n.-305_-291delinsGAGAG | |
| ENST00000529694.5:c.-305_-291delinsGAGAG | ENSP00000433295.1:n.-305_-291delinsGAGAG | |
| NM_000890.3:c.-305_-291delinsGAGAG , LRG_333t1:c.-305_-291delinsGAGAG | NP_000881.3:n.-305_-291delinsGAGAG | |
| NM_000890.4:c.-305_-291delinsGAGAG | NP_000881.3:n.-305_-291delinsGAGAG | |
| NM_001354169.1:c.-394_-380delinsGAGAG | NP_001341098.1:n.-394_-380delinsGAGAG | |
| NM_000890.5:c.-305_-291delinsGAGAG MANE Select | NP_000881.3:n.-305_-291delinsGAGAG | |
| NM_001354169.2:c.-394_-380delinsGAGAG | NP_001341098.1:n.-394_-380delinsGAGAG |