Linked Data
gnomAD v4:
1-204190409-T-TCCCCCCCACCCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204190413_204190414insCCCACCCCCCCC , CM000663.2:g.204190413_204190414insCCCACCCCCCCC | GRCh38 |
| NC_000001.10:g.204159541_204159542insCCCACCCCCCCC , CM000663.1:g.204159541_204159542insCCCACCCCCCCC | GRCh37 |
| NC_000001.9:g.202426164_202426165insCCCACCCCCCCC | NCBI36 |
| NG_032151.1:g.11082_11083insGGGGTGGGGGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367194.5:c.*74_*75insGGGGTGGGGGGG MANE Select | ENSP00000356162.4:n.*74_*75insGGGGTGGGGGGG | |
| ENST00000367194.4:c.*74_*75insGGGGTGGGGGGG | ENSP00000356162.4:n.*74_*75insGGGGTGGGGGGG | |
| NM_002256.3:c.*74_*75insGGGGTGGGGGGG | NP_002247.3:n.*74_*75insGGGGTGGGGGGG | |
| XM_011509525.1:c.*74_*75insGGGGTGGGGGGG | XP_011507827.1:n.*74_*75insGGGGTGGGGGGG | |
| NM_002256.4:c.*74_*75insGGGGTGGGGGGG MANE Select | NP_002247.3:n.*74_*75insGGGGTGGGGGGG |