Linked Data
gnomAD v4:
7-98187050-T-TCTG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.98187050_98187051insCTG , CM000669.2:g.98187050_98187051insCTG | GRCh38 |
| NC_000007.13:g.97816362_97816363insCTG , CM000669.1:g.97816362_97816363insCTG | GRCh37 |
| NC_000007.12:g.97654298_97654299insCTG | NCBI36 |
| NG_013375.1:g.85166_85167insCTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297293.6:c.998+52_998+53insCTG MANE Select | ENSP00000297293.5:n.998+52_998+53insCTG | |
| ENST00000297293.5:c.998+52_998+53insCTG | ENSP00000297293.5:n.998+52_998+53insCTG | |
| NM_014916.3:c.998+52_998+53insCTG | NP_055731.2:n.998+52_998+53insCTG | |
| XM_011515981.1:c.992+52_992+53insCTG | XP_011514283.1:n.992+52_992+53insCTG | |
| XM_011515981.3:c.992+52_992+53insCTG | XP_011514283.1:n.992+52_992+53insCTG | |
| NM_014916.4:c.998+52_998+53insCTG MANE Select | NP_055731.2:n.998+52_998+53insCTG |