Linked Data
gnomAD v4:
1-109264382-G-GGCCA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.109264382_109264383insGCCA , CM000663.2:g.109264382_109264383insGCCA | GRCh38 |
| NC_000001.10:g.109807004_109807005insGCCA , CM000663.1:g.109807004_109807005insGCCA | GRCh37 |
| NC_000001.9:g.109608527_109608528insGCCA | NCBI36 |
| NG_052669.1:g.19678_19679insGCCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271332.4:c.5289+17_5289+18insGCCA MANE Select | ENSP00000271332.3:n.5289+17_5289+18insGCCA | |
| ENST00000271332.3:c.5289+17_5289+18insGCCA | ENSP00000271332.3:n.5289+17_5289+18insGCCA | |
| NM_001408.2:c.5289+17_5289+18insGCCA | NP_001399.1:n.5289+17_5289+18insGCCA | |
| XM_005270580.3:c.5289+17_5289+18insGCCA | XP_005270637.1:n.5289+17_5289+18insGCCA | |
| NM_001408.3:c.5289+17_5289+18insGCCA MANE Select | NP_001399.1:n.5289+17_5289+18insGCCA |