Linked Data
gnomAD v3:
16-5027968-A-ACCCCCCCCCCCCCCCCCCCCCCC
gnomAD v4:
16-5027968-A-ACCCCCCCCCCCCCCCCCCCCCCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.5027973_5027974insCCCCCCCCCCCCCCCCCCCCCCC , CM000678.2:g.5027973_5027974insCCCCCCCCCCCCCCCCCCCCCCC | GRCh38 |
| NC_000016.9:g.5077974_5077975insCCCCCCCCCCCCCCCCCCCCCCC , CM000678.1:g.5077974_5077975insCCCCCCCCCCCCCCCCCCCCCCC | GRCh37 |
| NC_000016.8:g.5017975_5017976insCCCCCCCCCCCCCCCCCCCCCCC | NCBI36 |
| NG_028152.1:g.10973_10974insGGGGGGGGGGGGGGGGGGGGGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312251.8:c.1126+11_1126+12insGGGGGGGGGGGGGGGGGGGGGGG MANE Select | ENSP00000310998.3:n.1126+11_1126+12insGGGGGGGGGGGGGGGGGGGGGGG... | |
| ENST00000649828.1:c.*298+11_*298+12insGGGGGGGGGGGGGGGGGGGGGGG | ENSP00000498032.1:n.*298+11_*298+12insGGGGGGGGGGGGGGGGGGGGGGG... | |
| ENST00000312251.7:c.1126+11_1126+12insGGGGGGGGGGGGGGGGGGGGGGG | ENSP00000310998.3:n.1126+11_1126+12insGGGGGGGGGGGGGGGGGGGGGGG... | |
| ENST00000381955.7:c.1126+11_1126+12insGGGGGGGGGGGGGGGGGGGGGGG | ENSP00000371381.3:n.1126+11_1126+12insGGGGGGGGGGGGGGGGGGGGGGG... | |
| ENST00000562746.5:c.*298+11_*298+12insGGGGGGGGGGGGGGGGGGGGGGG | ENSP00000455900.1:n.*298+11_*298+12insGGGGGGGGGGGGGGGGGGGGGGG... | |
| ENST00000563578.5:c.738+911_738+912insGGGGGGGGGGGGGGGGGGGGGGG | ||
| ENST00000564397.5:n.2179+11_2179+12insGGGGGGGGGGGGGGGGGGGGGGG | ||
| ENST00000565876.5:c.481-590_481-589insGGGGGGGGGGGGGGGGGGGGGGG | ||
| ENST00000566137.5:n.424+11_424+12insGGGGGGGGGGGGGGGGGGGGGGG | ||
| ENST00000567739.5:n.445+11_445+12insGGGGGGGGGGGGGGGGGGGGGGG | ||
| ENST00000568202.5:n.989+11_989+12insGGGGGGGGGGGGGGGGGGGGGGG | ||
| ENST00000569296.5:c.739+11_739+12insGGGGGGGGGGGGGGGGGGGGGGG | ENSP00000465949.1:n.739+11_739+12insGGGGGGGGGGGGGGGGGGGGGGG | |
| NM_016256.3:c.1126+11_1126+12insGGGGGGGGGGGGGGGGGGGGGGG | NP_057340.2:n.1126+11_1126+12insGGGGGGGGGGGGGGGGGGGGGGG | |
| XM_011522517.1:c.1126+11_1126+12insGGGGGGGGGGGGGGGGGGGGGGG | XP_011520819.1:n.1126+11_1126+12insGGGGGGGGGGGGGGGGGGGGGGG | |
| XR_243285.1:n.1222+11_1222+12insGGGGGGGGGGGGGGGGGGGGGGG | ||
| XM_011522517.3:c.1126+11_1126+12insGGGGGGGGGGGGGGGGGGGGGGG | XP_011520819.1:n.1126+11_1126+12insGGGGGGGGGGGGGGGGGGGGGGG | |
| XR_001751908.2:n.1221+11_1221+12insGGGGGGGGGGGGGGGGGGGGGGG | ||
| XR_001751909.2:n.1225+11_1225+12insGGGGGGGGGGGGGGGGGGGGGGG | ||
| XR_001751910.2:n.1254+11_1254+12insGGGGGGGGGGGGGGGGGGGGGGG | ||
| XR_001751911.2:n.1254+11_1254+12insGGGGGGGGGGGGGGGGGGGGGGG | ||
| XR_001751912.2:n.1258+11_1258+12insGGGGGGGGGGGGGGGGGGGGGGG | ||
| NM_016256.4:c.1126+11_1126+12insGGGGGGGGGGGGGGGGGGGGGGG MANE Select | NP_057340.2:n.1126+11_1126+12insGGGGGGGGGGGGGGGGGGGGGGG |