Linked Data
gnomAD v3:
7-150950147-T-TGGGGGGGGGGGGGGGGGGGGGGGGG
gnomAD v4:
7-150950147-T-TGGGGGGGGGGGGGGGGGGGGGGGGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150950148_150950149insGGGGGGGGGGGGGGGGGGGGGGGGG , CM000669.2:g.150950148_150950149insGGGGGGGGGGGGGGGGGGGGGGGGG | GRCh38 |
| NC_000007.13:g.150647236_150647237insGGGGGGGGGGGGGGGGGGGGGGGGG , CM000669.1:g.150647236_150647237insGGGGGGGGGGGGGGGGGGGGGGGGG | GRCh37 |
| NC_000007.12:g.150278169_150278170insGGGGGGGGGGGGGGGGGGGGGGGGG | NCBI36 |
| NG_008916.1:g.32779_32780insCCCCCCCCCCCCCCCCCCCCCCCCC , LRG_288:g.32779_32780insCCCCCCCCCCCCCCCCCCCCCCCCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461280.2:n.1716_1717insCCCCCCCCCCCCCCCCCCCCCCCCC | ||
| ENST00000684241.1:n.3231+20_3231+21insCCCCCCCCCCCCCCCCCCCCCCCCC | ||
| ENST00000262186.10:c.2398+20_2398+21insCCCCCCCCCCCCCCCCCCCCCCCCC MANE Select | ENSP00000262186.5:n.2398+20_2398+21insCCCCCCCCCCCCCCCCCCCCCCC... | |
| ENST00000330883.9:c.1378+20_1378+21insCCCCCCCCCCCCCCCCCCCCCCCCC | ENSP00000328531.4:n.1378+20_1378+21insCCCCCCCCCCCCCCCCCCCCCCC... | |
| ENST00000262186.9:c.2398+20_2398+21insCCCCCCCCCCCCCCCCCCCCCCCCC | ENSP00000262186.5:n.2398+20_2398+21insCCCCCCCCCCCCCCCCCCCCCCC... | |
| ENST00000330883.8:c.1378+20_1378+21insCCCCCCCCCCCCCCCCCCCCCCCCC | ENSP00000328531.4:n.1378+20_1378+21insCCCCCCCCCCCCCCCCCCCCCCC... | |
| ENST00000430723.4:c.2070_2071insCCCCCCCCCCCCCCCCCCCCCCCCC | ENSP00000387657.4:p.Thr691ProfsTer? | |
| ENST00000461280.1:n.1705_1706insCCCCCCCCCCCCCCCCCCCCCCCCC | ||
| ENST00000473610.5:n.2050_2051insCCCCCCCCCCCCCCCCCCCCCCCCC | ||
| ENST00000532957.5:n.2641_2642insCCCCCCCCCCCCCCCCCCCCCCCCC | ||
| NM_000238.3:c.2398+20_2398+21insCCCCCCCCCCCCCCCCCCCCCCCCC , LRG_288t1:c.2398+20_2398+21insCCCCCCCCCCCCCCCCCCCCCCCCC | NP_000229.1:n.2398+20_2398+21insCCCCCCCCCCCCCCCCCCCCCCCCC | |
| NM_001204798.1:c.1398_1399insCCCCCCCCCCCCCCCCCCCCCCCCC | NP_001191727.1:p.Thr467ProfsTer? | |
| NM_172056.2:c.2418_2419insCCCCCCCCCCCCCCCCCCCCCCCCC , LRG_288t2:c.2418_2419insCCCCCCCCCCCCCCCCCCCCCCCCC | NP_742053.1:p.Thr807ProfsTer? | |
| NM_172057.2:c.1378+20_1378+21insCCCCCCCCCCCCCCCCCCCCCCCCC , LRG_288t3:c.1378+20_1378+21insCCCCCCCCCCCCCCCCCCCCCCCCC | NP_742054.1:n.1378+20_1378+21insCCCCCCCCCCCCCCCCCCCCCCCCC | |
| XM_011516185.1:c.2098+20_2098+21insCCCCCCCCCCCCCCCCCCCCCCCCC | XP_011514487.1:n.2098+20_2098+21insCCCCCCCCCCCCCCCCCCCCCCCCC | |
| XM_011516186.1:c.2398+20_2398+21insCCCCCCCCCCCCCCCCCCCCCCCCC | XP_011514488.1:n.2398+20_2398+21insCCCCCCCCCCCCCCCCCCCCCCCCC | |
| XM_011516185.2:c.2098+20_2098+21insCCCCCCCCCCCCCCCCCCCCCCCCC | XP_011514487.1:n.2098+20_2098+21insCCCCCCCCCCCCCCCCCCCCCCCCC | |
| XM_011516186.3:c.2398+20_2398+21insCCCCCCCCCCCCCCCCCCCCCCCCC | XP_011514488.1:n.2398+20_2398+21insCCCCCCCCCCCCCCCCCCCCCCCCC | |
| XM_017012195.1:c.2248+20_2248+21insCCCCCCCCCCCCCCCCCCCCCCCCC | XP_016867684.1:n.2248+20_2248+21insCCCCCCCCCCCCCCCCCCCCCCCCC | |
| XM_017012196.1:c.2221+20_2221+21insCCCCCCCCCCCCCCCCCCCCCCCCC | XP_016867685.1:n.2221+20_2221+21insCCCCCCCCCCCCCCCCCCCCCCCCC | |
| NM_000238.4:c.2398+20_2398+21insCCCCCCCCCCCCCCCCCCCCCCCCC MANE Select | NP_000229.1:n.2398+20_2398+21insCCCCCCCCCCCCCCCCCCCCCCCCC | |
| NM_001204798.2:c.1398_1399insCCCCCCCCCCCCCCCCCCCCCCCCC | NP_001191727.1:p.Thr467ProfsTer? | |
| NM_172057.3:c.1378+20_1378+21insCCCCCCCCCCCCCCCCCCCCCCCCC | NP_742054.1:n.1378+20_1378+21insCCCCCCCCCCCCCCCCCCCCCCCCC |