Linked Data
gnomAD v4:
1-109264382-G-GGCCACCCCAACCCCCCCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.109264382_109264383insGCCACCCCAACCCCCCCC , CM000663.2:g.109264382_109264383insGCCACCCCAACCCCCCCC | GRCh38 |
| NC_000001.10:g.109807004_109807005insGCCACCCCAACCCCCCCC , CM000663.1:g.109807004_109807005insGCCACCCCAACCCCCCCC | GRCh37 |
| NC_000001.9:g.109608527_109608528insGCCACCCCAACCCCCCCC | NCBI36 |
| NG_052669.1:g.19678_19679insGCCACCCCAACCCCCCCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271332.4:c.5289+17_5289+18insGCCACCCCAACCCCCCCC MANE Select | ENSP00000271332.3:n.5289+17_5289+18insGCCACCCCAACCCCCCCC | |
| ENST00000271332.3:c.5289+17_5289+18insGCCACCCCAACCCCCCCC | ENSP00000271332.3:n.5289+17_5289+18insGCCACCCCAACCCCCCCC | |
| NM_001408.2:c.5289+17_5289+18insGCCACCCCAACCCCCCCC | NP_001399.1:n.5289+17_5289+18insGCCACCCCAACCCCCCCC | |
| XM_005270580.3:c.5289+17_5289+18insGCCACCCCAACCCCCCCC | XP_005270637.1:n.5289+17_5289+18insGCCACCCCAACCCCCCCC | |
| NM_001408.3:c.5289+17_5289+18insGCCACCCCAACCCCCCCC MANE Select | NP_001399.1:n.5289+17_5289+18insGCCACCCCAACCCCCCCC |