Linked Data
dbSNP Id:
rs1160699929
gnomAD v3:
11-128891441-C-CACAGAGAGAGAGAGAGAG
gnomAD v4:
11-128891441-C-CACAGAGAGAGAGAGAGAG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128891442_128891443insCAGAGAGAGAGAGAGAGA , CM000673.2:g.128891442_128891443insCAGAGAGAGAGAGAGAGA | GRCh38 |
| NC_000011.9:g.128761337_128761338insCAGAGAGAGAGAGAGAGA , CM000673.1:g.128761337_128761338insCAGAGAGAGAGAGAGAGA | GRCh37 |
| NC_000011.8:g.128266547_128266548insCAGAGAGAGAGAGAGAGA | NCBI36 |
| NG_023406.2:g.5025_5026insCAGAGAGAGAGAGAGAGA , LRG_333:g.5025_5026insCAGAGAGAGAGAGAGAGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529694.6:c.-290_-289insCAGAGAGAGAGAGAGAGA MANE Select | ENSP00000433295.1:n.-290_-289insCAGAGAGAGAGAGAGAGA | |
| ENST00000529694.5:c.-290_-289insCAGAGAGAGAGAGAGAGA | ENSP00000433295.1:n.-290_-289insCAGAGAGAGAGAGAGAGA | |
| NM_000890.3:c.-290_-289insCAGAGAGAGAGAGAGAGA , LRG_333t1:c.-290_-289insCAGAGAGAGAGAGAGAGA | NP_000881.3:n.-290_-289insCAGAGAGAGAGAGAGAGA | |
| NM_000890.4:c.-290_-289insCAGAGAGAGAGAGAGAGA | NP_000881.3:n.-290_-289insCAGAGAGAGAGAGAGAGA | |
| NM_001354169.1:c.-379_-378insCAGAGAGAGAGAGAGAGA | NP_001341098.1:n.-379_-378insCAGAGAGAGAGAGAGAGA | |
| NM_000890.5:c.-290_-289insCAGAGAGAGAGAGAGAGA MANE Select | NP_000881.3:n.-290_-289insCAGAGAGAGAGAGAGAGA | |
| NM_001354169.2:c.-379_-378insCAGAGAGAGAGAGAGAGA | NP_001341098.1:n.-379_-378insCAGAGAGAGAGAGAGAGA |