Linked Data
dbSNP Id:
rs1565540584
gnomAD v3:
11-128891460-A-AGAGAGAGAGAGAGAGAGAGAGAGG
gnomAD v4:
11-128891460-A-AGAGAGAGAGAGAGAGAGAGAGAGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128891476_128891477insGAGAGAGGGAGAGAGAGAGAGAGA , CM000673.2:g.128891476_128891477insGAGAGAGGGAGAGAGAGAGAGAGA | GRCh38 |
| NC_000011.9:g.128761371_128761372insGAGAGAGGGAGAGAGAGAGAGAGA , CM000673.1:g.128761371_128761372insGAGAGAGGGAGAGAGAGAGAGAGA | GRCh37 |
| NC_000011.8:g.128266581_128266582insGAGAGAGGGAGAGAGAGAGAGAGA | NCBI36 |
| NG_023406.2:g.5059_5060insGAGAGAGGGAGAGAGAGAGAGAGA , LRG_333:g.5059_5060insGAGAGAGGGAGAGAGAGAGAGAGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529694.6:c.-256_-255insGAGAGAGGGAGAGAGAGAGAGAGA MANE Select | ENSP00000433295.1:n.-256_-255insGAGAGAGGGAGAGAGAGAGAGAGA | |
| ENST00000529694.5:c.-256_-255insGAGAGAGGGAGAGAGAGAGAGAGA | ENSP00000433295.1:n.-256_-255insGAGAGAGGGAGAGAGAGAGAGAGA | |
| NM_000890.3:c.-256_-255insGAGAGAGGGAGAGAGAGAGAGAGA , LRG_333t1:c.-256_-255insGAGAGAGGGAGAGAGAGAGAGAGA | NP_000881.3:n.-256_-255insGAGAGAGGGAGAGAGAGAGAGAGA | |
| NM_000890.4:c.-256_-255insGAGAGAGGGAGAGAGAGAGAGAGA | NP_000881.3:n.-256_-255insGAGAGAGGGAGAGAGAGAGAGAGA | |
| NM_001354169.1:c.-345_-344insGAGAGAGGGAGAGAGAGAGAGAGA | NP_001341098.1:n.-345_-344insGAGAGAGGGAGAGAGAGAGAGAGA | |
| NM_000890.5:c.-256_-255insGAGAGAGGGAGAGAGAGAGAGAGA MANE Select | NP_000881.3:n.-256_-255insGAGAGAGGGAGAGAGAGAGAGAGA | |
| NM_001354169.2:c.-345_-344insGAGAGAGGGAGAGAGAGAGAGAGA | NP_001341098.1:n.-345_-344insGAGAGAGGGAGAGAGAGAGAGAGA |