Linked Data
gnomAD v3:
16-5027954-G-GCCCCCCCCCCCCCCCCCCCCCC
gnomAD v4:
16-5027954-G-GCCCCCCCCCCCCCCCCCCCCCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.5027959_5027960insCCCCCCCCCCCCCCCCCCCCCC , CM000678.2:g.5027959_5027960insCCCCCCCCCCCCCCCCCCCCCC | GRCh38 |
| NC_000016.9:g.5077960_5077961insCCCCCCCCCCCCCCCCCCCCCC , CM000678.1:g.5077960_5077961insCCCCCCCCCCCCCCCCCCCCCC | GRCh37 |
| NC_000016.8:g.5017961_5017962insCCCCCCCCCCCCCCCCCCCCCC | NCBI36 |
| NG_028152.1:g.10987_10988insGGGGGGGGGGGGGGGGGGGGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312251.8:c.1126+25_1126+26insGGGGGGGGGGGGGGGGGGGGGG MANE Select | ENSP00000310998.3:n.1126+25_1126+26insGGGGGGGGGGGGGGGGGGGGGG | |
| ENST00000649828.1:c.*298+25_*298+26insGGGGGGGGGGGGGGGGGGGGGG | ENSP00000498032.1:n.*298+25_*298+26insGGGGGGGGGGGGGGGGGGGGGG | |
| ENST00000312251.7:c.1126+25_1126+26insGGGGGGGGGGGGGGGGGGGGGG | ENSP00000310998.3:n.1126+25_1126+26insGGGGGGGGGGGGGGGGGGGGGG | |
| ENST00000381955.7:c.1126+25_1126+26insGGGGGGGGGGGGGGGGGGGGGG | ENSP00000371381.3:n.1126+25_1126+26insGGGGGGGGGGGGGGGGGGGGGG | |
| ENST00000562746.5:c.*298+25_*298+26insGGGGGGGGGGGGGGGGGGGGGG | ENSP00000455900.1:n.*298+25_*298+26insGGGGGGGGGGGGGGGGGGGGGG | |
| ENST00000563578.5:c.738+925_738+926insGGGGGGGGGGGGGGGGGGGGGG | ||
| ENST00000564397.5:n.2179+25_2179+26insGGGGGGGGGGGGGGGGGGGGGG | ||
| ENST00000565876.5:c.481-576_481-575insGGGGGGGGGGGGGGGGGGGGGG | ||
| ENST00000566137.5:n.424+25_424+26insGGGGGGGGGGGGGGGGGGGGGG | ||
| ENST00000567739.5:n.445+25_445+26insGGGGGGGGGGGGGGGGGGGGGG | ||
| ENST00000568202.5:n.989+25_989+26insGGGGGGGGGGGGGGGGGGGGGG | ||
| ENST00000569296.5:c.739+25_739+26insGGGGGGGGGGGGGGGGGGGGGG | ENSP00000465949.1:n.739+25_739+26insGGGGGGGGGGGGGGGGGGGGGG | |
| NM_016256.3:c.1126+25_1126+26insGGGGGGGGGGGGGGGGGGGGGG | NP_057340.2:n.1126+25_1126+26insGGGGGGGGGGGGGGGGGGGGGG | |
| XM_011522517.1:c.1126+25_1126+26insGGGGGGGGGGGGGGGGGGGGGG | XP_011520819.1:n.1126+25_1126+26insGGGGGGGGGGGGGGGGGGGGGG | |
| XR_243285.1:n.1222+25_1222+26insGGGGGGGGGGGGGGGGGGGGGG | ||
| XM_011522517.3:c.1126+25_1126+26insGGGGGGGGGGGGGGGGGGGGGG | XP_011520819.1:n.1126+25_1126+26insGGGGGGGGGGGGGGGGGGGGGG | |
| XR_001751908.2:n.1221+25_1221+26insGGGGGGGGGGGGGGGGGGGGGG | ||
| XR_001751909.2:n.1225+25_1225+26insGGGGGGGGGGGGGGGGGGGGGG | ||
| XR_001751910.2:n.1254+25_1254+26insGGGGGGGGGGGGGGGGGGGGGG | ||
| XR_001751911.2:n.1254+25_1254+26insGGGGGGGGGGGGGGGGGGGGGG | ||
| XR_001751912.2:n.1258+25_1258+26insGGGGGGGGGGGGGGGGGGGGGG | ||
| NM_016256.4:c.1126+25_1126+26insGGGGGGGGGGGGGGGGGGGGGG MANE Select | NP_057340.2:n.1126+25_1126+26insGGGGGGGGGGGGGGGGGGGGGG |