Linked Data
gnomAD v4:
1-204190409-T-TTGGGCCCCCCCCCCCCCCCCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204190409_204190410insTGGGCCCCCCCCCCCCCCCCC , CM000663.2:g.204190409_204190410insTGGGCCCCCCCCCCCCCCCCC | GRCh38 |
| NC_000001.10:g.204159537_204159538insTGGGCCCCCCCCCCCCCCCCC , CM000663.1:g.204159537_204159538insTGGGCCCCCCCCCCCCCCCCC | GRCh37 |
| NC_000001.9:g.202426160_202426161insTGGGCCCCCCCCCCCCCCCCC | NCBI36 |
| NG_032151.1:g.11082_11083insGGGGGGGGGGGGGGGGGCCCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367194.5:c.*74_*75insGGGGGGGGGGGGGGGGGCCCA MANE Select | ENSP00000356162.4:n.*74_*75insGGGGGGGGGGGGGGGGGCCCA | |
| ENST00000367194.4:c.*74_*75insGGGGGGGGGGGGGGGGGCCCA | ENSP00000356162.4:n.*74_*75insGGGGGGGGGGGGGGGGGCCCA | |
| NM_002256.3:c.*74_*75insGGGGGGGGGGGGGGGGGCCCA | NP_002247.3:n.*74_*75insGGGGGGGGGGGGGGGGGCCCA | |
| XM_011509525.1:c.*74_*75insGGGGGGGGGGGGGGGGGCCCA | XP_011507827.1:n.*74_*75insGGGGGGGGGGGGGGGGGCCCA | |
| NM_002256.4:c.*74_*75insGGGGGGGGGGGGGGGGGCCCA MANE Select | NP_002247.3:n.*74_*75insGGGGGGGGGGGGGGGGGCCCA |