Linked Data
dbSNP Id:
rs1565540584
gnomAD v3:
11-128891460-A-AGAGAGAGAGAGAGAGAGAGAGAGAGAGG
gnomAD v4:
11-128891460-A-AGAGAGAGAGAGAGAGAGAGAGAGAGAGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128891476_128891477insGAGAGAGAGAGGGAGAGAGAGAGAGAGA , CM000673.2:g.128891476_128891477insGAGAGAGAGAGGGAGAGAGAGAGAGAGA | GRCh38 |
| NC_000011.9:g.128761371_128761372insGAGAGAGAGAGGGAGAGAGAGAGAGAGA , CM000673.1:g.128761371_128761372insGAGAGAGAGAGGGAGAGAGAGAGAGAGA | GRCh37 |
| NC_000011.8:g.128266581_128266582insGAGAGAGAGAGGGAGAGAGAGAGAGAGA | NCBI36 |
| NG_023406.2:g.5059_5060insGAGAGAGAGAGGGAGAGAGAGAGAGAGA , LRG_333:g.5059_5060insGAGAGAGAGAGGGAGAGAGAGAGAGAGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529694.6:c.-256_-255insGAGAGAGAGAGGGAGAGAGAGAGAGAGA MANE Select | ENSP00000433295.1:n.-256_-255insGAGAGAGAGAGGGAGAGAGAGAGAGAGA | |
| ENST00000529694.5:c.-256_-255insGAGAGAGAGAGGGAGAGAGAGAGAGAGA | ENSP00000433295.1:n.-256_-255insGAGAGAGAGAGGGAGAGAGAGAGAGAGA | |
| NM_000890.3:c.-256_-255insGAGAGAGAGAGGGAGAGAGAGAGAGAGA , LRG_333t1:c.-256_-255insGAGAGAGAGAGGGAGAGAGAGAGAGAGA | NP_000881.3:n.-256_-255insGAGAGAGAGAGGGAGAGAGAGAGAGAGA | |
| NM_000890.4:c.-256_-255insGAGAGAGAGAGGGAGAGAGAGAGAGAGA | NP_000881.3:n.-256_-255insGAGAGAGAGAGGGAGAGAGAGAGAGAGA | |
| NM_001354169.1:c.-345_-344insGAGAGAGAGAGGGAGAGAGAGAGAGAGA | NP_001341098.1:n.-345_-344insGAGAGAGAGAGGGAGAGAGAGAGAGAGA | |
| NM_000890.5:c.-256_-255insGAGAGAGAGAGGGAGAGAGAGAGAGAGA MANE Select | NP_000881.3:n.-256_-255insGAGAGAGAGAGGGAGAGAGAGAGAGAGA | |
| NM_001354169.2:c.-345_-344insGAGAGAGAGAGGGAGAGAGAGAGAGAGA | NP_001341098.1:n.-345_-344insGAGAGAGAGAGGGAGAGAGAGAGAGAGA |