Linked Data
gnomAD v4:
1-204190431-C-CCCCCCCCCCG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204190431_204190432insCCCCCCCCCG , CM000663.2:g.204190431_204190432insCCCCCCCCCG | GRCh38 |
| NC_000001.10:g.204159559_204159560insCCCCCCCCCG , CM000663.1:g.204159559_204159560insCCCCCCCCCG | GRCh37 |
| NC_000001.9:g.202426182_202426183insCCCCCCCCCG | NCBI36 |
| NG_032151.1:g.11060_11061insCGGGGGGGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367194.5:c.*52_*53insCGGGGGGGGG MANE Select | ENSP00000356162.4:n.*52_*53insCGGGGGGGGG | |
| ENST00000367194.4:c.*52_*53insCGGGGGGGGG | ENSP00000356162.4:n.*52_*53insCGGGGGGGGG | |
| NM_002256.3:c.*52_*53insCGGGGGGGGG | NP_002247.3:n.*52_*53insCGGGGGGGGG | |
| XM_011509525.1:c.*52_*53insCGGGGGGGGG | XP_011507827.1:n.*52_*53insCGGGGGGGGG | |
| NM_002256.4:c.*52_*53insCGGGGGGGGG MANE Select | NP_002247.3:n.*52_*53insCGGGGGGGGG |