Linked Data
dbSNP Id:
rs2076117325
gnomAD v3:
15-28284938-A-AAAAAAAAAAAAAAAAAAAAAC
gnomAD v4:
15-28284938-A-AAAAAAAAAAAAAAAAAAAAAC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.28284949_28284950insAAAAAAAAACAAAAAAAAAAA , CM000677.2:g.28284949_28284950insAAAAAAAAACAAAAAAAAAAA | GRCh38 |
| NC_000015.9:g.28530095_28530096insAAAAAAAAACAAAAAAAAAAA , CM000677.1:g.28530095_28530096insAAAAAAAAACAAAAAAAAAAA | GRCh37 |
| NC_000015.8:g.26203690_26203691insAAAAAAAAACAAAAAAAAAAA | NCBI36 |
| NG_016355.1:g.42211_42212insGTTTTTTTTTTTTTTTTTTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261609.13:c.323-4652_323-4651insGTTTTTTTTTTTTTTTTTTTT MANE Select | ENSP00000261609.8:n.323-4652_323-4651insGTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000261609.11:c.323-4652_323-4651insGTTTTTTTTTTTTTTTTTTTT | ENSP00000261609.7:n.323-4652_323-4651insGTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000564383.1:n.218-4652_218-4651insGTTTTTTTTTTTTTTTTTTTT | ||
| ENST00000564734.5:c.*193-4652_*193-4651insGTTTTTTTTTTTTTTTTTTTT | ENSP00000456237.1:n.*193-4652_*193-4651insGTTTTTTTTTTTTTTTTTT... | |
| NM_004667.5:c.323-4652_323-4651insGTTTTTTTTTTTTTTTTTTTT | NP_004658.3:n.323-4652_323-4651insGTTTTTTTTTTTTTTTTTTTT | |
| XM_005268276.3:c.209-4652_209-4651insGTTTTTTTTTTTTTTTTTTTT | XP_005268333.1:n.209-4652_209-4651insGTTTTTTTTTTTTTTTTTTTT | |
| XM_005268277.3:c.209-4652_209-4651insGTTTTTTTTTTTTTTTTTTTT | XP_005268334.1:n.209-4652_209-4651insGTTTTTTTTTTTTTTTTTTTT | |
| XM_006720726.2:c.323-4652_323-4651insGTTTTTTTTTTTTTTTTTTTT | XP_006720789.1:n.323-4652_323-4651insGTTTTTTTTTTTTTTTTTTTT | |
| XM_006720727.2:c.323-4652_323-4651insGTTTTTTTTTTTTTTTTTTTT | XP_006720790.1:n.323-4652_323-4651insGTTTTTTTTTTTTTTTTTTTT | |
| XM_011522133.1:c.322+7949_322+7950insGTTTTTTTTTTTTTTTTTTTT | XP_011520435.1:n.322+7949_322+7950insGTTTTTTTTTTTTTTTTTTTT | |
| XM_011522135.1:c.323-4652_323-4651insGTTTTTTTTTTTTTTTTTTTT | XP_011520437.1:n.323-4652_323-4651insGTTTTTTTTTTTTTTTTTTTT | |
| XM_011522136.1:c.323-4652_323-4651insGTTTTTTTTTTTTTTTTTTTT | XP_011520438.1:n.323-4652_323-4651insGTTTTTTTTTTTTTTTTTTTT | |
| XM_011522137.1:c.323-4652_323-4651insGTTTTTTTTTTTTTTTTTTTT | XP_011520439.1:n.323-4652_323-4651insGTTTTTTTTTTTTTTTTTTTT | |
| XR_931930.1:n.452-4652_452-4651insGTTTTTTTTTTTTTTTTTTTT | ||
| XR_931931.1:n.452-4652_452-4651insGTTTTTTTTTTTTTTTTTTTT | ||
| XM_005268276.5:c.209-4652_209-4651insGTTTTTTTTTTTTTTTTTTTT | XP_005268333.1:n.209-4652_209-4651insGTTTTTTTTTTTTTTTTTTTT | |
| XM_006720726.3:c.323-4652_323-4651insGTTTTTTTTTTTTTTTTTTTT | XP_006720789.1:n.323-4652_323-4651insGTTTTTTTTTTTTTTTTTTTT | |
| XM_006720727.3:c.323-4652_323-4651insGTTTTTTTTTTTTTTTTTTTT | XP_006720790.1:n.323-4652_323-4651insGTTTTTTTTTTTTTTTTTTTT | |
| XM_017022695.1:c.209-4652_209-4651insGTTTTTTTTTTTTTTTTTTTT | XP_016878184.1:n.209-4652_209-4651insGTTTTTTTTTTTTTTTTTTTT | |
| XM_017022696.1:c.209-4652_209-4651insGTTTTTTTTTTTTTTTTTTTT | XP_016878185.1:n.209-4652_209-4651insGTTTTTTTTTTTTTTTTTTTT | |
| XR_001751410.1:n.453-4652_453-4651insGTTTTTTTTTTTTTTTTTTTT | ||
| XR_931930.2:n.453-4652_453-4651insGTTTTTTTTTTTTTTTTTTTT | ||
| NM_004667.6:c.323-4652_323-4651insGTTTTTTTTTTTTTTTTTTTT MANE Select | NP_004658.3:n.323-4652_323-4651insGTTTTTTTTTTTTTTTTTTTT |