Linked Data
dbSNP Id:
rs1944085485
gnomAD v3:
11-128891441-C-CAGAAAGAGAGAG
gnomAD v4:
11-128891441-C-CAGAAAGAGAGAG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128891444_128891445insAAGAGAGAGAGA , CM000673.2:g.128891444_128891445insAAGAGAGAGAGA | GRCh38 |
| NC_000011.9:g.128761339_128761340insAAGAGAGAGAGA , CM000673.1:g.128761339_128761340insAAGAGAGAGAGA | GRCh37 |
| NC_000011.8:g.128266549_128266550insAAGAGAGAGAGA | NCBI36 |
| NG_023406.2:g.5027_5028insAAGAGAGAGAGA , LRG_333:g.5027_5028insAAGAGAGAGAGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529694.6:c.-288_-287insAAGAGAGAGAGA MANE Select | ENSP00000433295.1:n.-288_-287insAAGAGAGAGAGA | |
| ENST00000529694.5:c.-288_-287insAAGAGAGAGAGA | ENSP00000433295.1:n.-288_-287insAAGAGAGAGAGA | |
| NM_000890.3:c.-288_-287insAAGAGAGAGAGA , LRG_333t1:c.-288_-287insAAGAGAGAGAGA | NP_000881.3:n.-288_-287insAAGAGAGAGAGA | |
| NM_000890.4:c.-288_-287insAAGAGAGAGAGA | NP_000881.3:n.-288_-287insAAGAGAGAGAGA | |
| NM_001354169.1:c.-377_-376insAAGAGAGAGAGA | NP_001341098.1:n.-377_-376insAAGAGAGAGAGA | |
| NM_000890.5:c.-288_-287insAAGAGAGAGAGA MANE Select | NP_000881.3:n.-288_-287insAAGAGAGAGAGA | |
| NM_001354169.2:c.-377_-376insAAGAGAGAGAGA | NP_001341098.1:n.-377_-376insAAGAGAGAGAGA |