Linked Data
gnomAD v3:
11-128891476-A-AGAGAGAGAGAGAGAGAG
gnomAD v4:
11-128891476-A-AGAGAGAGAGAGAGAGAG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128891476_128891477insGAGAGAGAGAGAGAGAG , CM000673.2:g.128891476_128891477insGAGAGAGAGAGAGAGAG | GRCh38 |
| NC_000011.9:g.128761371_128761372insGAGAGAGAGAGAGAGAG , CM000673.1:g.128761371_128761372insGAGAGAGAGAGAGAGAG | GRCh37 |
| NC_000011.8:g.128266581_128266582insGAGAGAGAGAGAGAGAG | NCBI36 |
| NG_023406.2:g.5059_5060insGAGAGAGAGAGAGAGAG , LRG_333:g.5059_5060insGAGAGAGAGAGAGAGAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529694.6:c.-256_-255insGAGAGAGAGAGAGAGAG MANE Select | ENSP00000433295.1:n.-256_-255insGAGAGAGAGAGAGAGAG | |
| ENST00000338350.4:c.-345_-344insGAGAGAGAGAGAGAGAG | ENSP00000339960.4:n.-345_-344insGAGAGAGAGAGAGAGAG | |
| ENST00000529694.5:c.-256_-255insGAGAGAGAGAGAGAGAG | ENSP00000433295.1:n.-256_-255insGAGAGAGAGAGAGAGAG | |
| NM_000890.3:c.-256_-255insGAGAGAGAGAGAGAGAG , LRG_333t1:c.-256_-255insGAGAGAGAGAGAGAGAG | NP_000881.3:n.-256_-255insGAGAGAGAGAGAGAGAG | |
| NM_000890.4:c.-256_-255insGAGAGAGAGAGAGAGAG | NP_000881.3:n.-256_-255insGAGAGAGAGAGAGAGAG | |
| NM_001354169.1:c.-345_-344insGAGAGAGAGAGAGAGAG | NP_001341098.1:n.-345_-344insGAGAGAGAGAGAGAGAG | |
| NM_000890.5:c.-256_-255insGAGAGAGAGAGAGAGAG MANE Select | NP_000881.3:n.-256_-255insGAGAGAGAGAGAGAGAG | |
| NM_001354169.2:c.-345_-344insGAGAGAGAGAGAGAGAG | NP_001341098.1:n.-345_-344insGAGAGAGAGAGAGAGAG |