Linked Data
dbSNP Id:
rs1286900771
gnomAD v3:
11-128891433-C-CAGAGAGAGAGAGAGAGAG
gnomAD v4:
11-128891433-C-CAGAGAGAGAGAGAGAGAG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128891434_128891435insGAGAGAGAGAGAGAGAGA , CM000673.2:g.128891434_128891435insGAGAGAGAGAGAGAGAGA | GRCh38 |
| NC_000011.9:g.128761329_128761330insGAGAGAGAGAGAGAGAGA , CM000673.1:g.128761329_128761330insGAGAGAGAGAGAGAGAGA | GRCh37 |
| NC_000011.8:g.128266539_128266540insGAGAGAGAGAGAGAGAGA | NCBI36 |
| NG_023406.2:g.5017_5018insGAGAGAGAGAGAGAGAGA , LRG_333:g.5017_5018insGAGAGAGAGAGAGAGAGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529694.6:c.-298_-297insGAGAGAGAGAGAGAGAGA MANE Select | ENSP00000433295.1:n.-298_-297insGAGAGAGAGAGAGAGAGA | |
| ENST00000529694.5:c.-298_-297insGAGAGAGAGAGAGAGAGA | ENSP00000433295.1:n.-298_-297insGAGAGAGAGAGAGAGAGA | |
| NM_000890.3:c.-298_-297insGAGAGAGAGAGAGAGAGA , LRG_333t1:c.-298_-297insGAGAGAGAGAGAGAGAGA | NP_000881.3:n.-298_-297insGAGAGAGAGAGAGAGAGA | |
| NM_000890.4:c.-298_-297insGAGAGAGAGAGAGAGAGA | NP_000881.3:n.-298_-297insGAGAGAGAGAGAGAGAGA | |
| NM_001354169.1:c.-387_-386insGAGAGAGAGAGAGAGAGA | NP_001341098.1:n.-387_-386insGAGAGAGAGAGAGAGAGA | |
| NM_000890.5:c.-298_-297insGAGAGAGAGAGAGAGAGA MANE Select | NP_000881.3:n.-298_-297insGAGAGAGAGAGAGAGAGA | |
| NM_001354169.2:c.-387_-386insGAGAGAGAGAGAGAGAGA | NP_001341098.1:n.-387_-386insGAGAGAGAGAGAGAGAGA |