Linked Data
gnomAD v4:
1-204190408-G-GCCCCCCCCCCCCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204190408_204190409insCCCCCCCCCCCCC , CM000663.2:g.204190408_204190409insCCCCCCCCCCCCC | GRCh38 |
| NC_000001.10:g.204159536_204159537insCCCCCCCCCCCCC , CM000663.1:g.204159536_204159537insCCCCCCCCCCCCC | GRCh37 |
| NC_000001.9:g.202426159_202426160insCCCCCCCCCCCCC | NCBI36 |
| NG_032151.1:g.11083_11084insGGGGGGGGGGGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367194.5:c.*75_*76insGGGGGGGGGGGGG MANE Select | ENSP00000356162.4:n.*75_*76insGGGGGGGGGGGGG | |
| ENST00000367194.4:c.*75_*76insGGGGGGGGGGGGG | ENSP00000356162.4:n.*75_*76insGGGGGGGGGGGGG | |
| NM_002256.3:c.*75_*76insGGGGGGGGGGGGG | NP_002247.3:n.*75_*76insGGGGGGGGGGGGG | |
| XM_011509525.1:c.*75_*76insGGGGGGGGGGGGG | XP_011507827.1:n.*75_*76insGGGGGGGGGGGGG | |
| NM_002256.4:c.*75_*76insGGGGGGGGGGGGG MANE Select | NP_002247.3:n.*75_*76insGGGGGGGGGGGGG |