Linked Data
gnomAD v4:
1-204190426-C-CCCCCCCCCCCCCCCCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204190426_204190427insCCCCCCCCCCCCCCCT , CM000663.2:g.204190426_204190427insCCCCCCCCCCCCCCCT | GRCh38 |
| NC_000001.10:g.204159554_204159555insCCCCCCCCCCCCCCCT , CM000663.1:g.204159554_204159555insCCCCCCCCCCCCCCCT | GRCh37 |
| NC_000001.9:g.202426177_202426178insCCCCCCCCCCCCCCCT | NCBI36 |
| NG_032151.1:g.11065_11066insAGGGGGGGGGGGGGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367194.5:c.*57_*58insAGGGGGGGGGGGGGGG MANE Select | ENSP00000356162.4:n.*57_*58insAGGGGGGGGGGGGGGG | |
| ENST00000367194.4:c.*57_*58insAGGGGGGGGGGGGGGG | ENSP00000356162.4:n.*57_*58insAGGGGGGGGGGGGGGG | |
| NM_002256.3:c.*57_*58insAGGGGGGGGGGGGGGG | NP_002247.3:n.*57_*58insAGGGGGGGGGGGGGGG | |
| XM_011509525.1:c.*57_*58insAGGGGGGGGGGGGGGG | XP_011507827.1:n.*57_*58insAGGGGGGGGGGGGGGG | |
| NM_002256.4:c.*57_*58insAGGGGGGGGGGGGGGG MANE Select | NP_002247.3:n.*57_*58insAGGGGGGGGGGGGGGG |