Linked Data
gnomAD v3:
7-150950145-A-AGGGGGGGGGGGGGGGGGGG
gnomAD v4:
7-150950145-A-AGGGGGGGGGGGGGGGGGGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150950146_150950147insGGGGGGGGGGGGGGGGGGG , CM000669.2:g.150950146_150950147insGGGGGGGGGGGGGGGGGGG | GRCh38 |
| NC_000007.13:g.150647234_150647235insGGGGGGGGGGGGGGGGGGG , CM000669.1:g.150647234_150647235insGGGGGGGGGGGGGGGGGGG | GRCh37 |
| NC_000007.12:g.150278167_150278168insGGGGGGGGGGGGGGGGGGG | NCBI36 |
| NG_008916.1:g.32781_32782insCCCCCCCCCCCCCCCCCCC , LRG_288:g.32781_32782insCCCCCCCCCCCCCCCCCCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461280.2:n.1718_1719insCCCCCCCCCCCCCCCCCCC | ||
| ENST00000684241.1:n.3231+22_3231+23insCCCCCCCCCCCCCCCCCCC | ||
| ENST00000262186.10:c.2398+22_2398+23insCCCCCCCCCCCCCCCCCCC MANE Select | ENSP00000262186.5:n.2398+22_2398+23insCCCCCCCCCCCCCCCCCCC | |
| ENST00000330883.9:c.1378+22_1378+23insCCCCCCCCCCCCCCCCCCC | ENSP00000328531.4:n.1378+22_1378+23insCCCCCCCCCCCCCCCCCCC | |
| ENST00000262186.9:c.2398+22_2398+23insCCCCCCCCCCCCCCCCCCC | ENSP00000262186.5:n.2398+22_2398+23insCCCCCCCCCCCCCCCCCCC | |
| ENST00000330883.8:c.1378+22_1378+23insCCCCCCCCCCCCCCCCCCC | ENSP00000328531.4:n.1378+22_1378+23insCCCCCCCCCCCCCCCCCCC | |
| ENST00000430723.4:c.2072_2073insCCCCCCCCCCCCCCCCCCC | ENSP00000387657.4:p.Gly692ProfsTer? | |
| ENST00000461280.1:n.1707_1708insCCCCCCCCCCCCCCCCCCC | ||
| ENST00000473610.5:n.2052_2053insCCCCCCCCCCCCCCCCCCC | ||
| ENST00000532957.5:n.2643_2644insCCCCCCCCCCCCCCCCCCC | ||
| NM_000238.3:c.2398+22_2398+23insCCCCCCCCCCCCCCCCCCC , LRG_288t1:c.2398+22_2398+23insCCCCCCCCCCCCCCCCCCC | NP_000229.1:n.2398+22_2398+23insCCCCCCCCCCCCCCCCCCC | |
| NM_001204798.1:c.1400_1401insCCCCCCCCCCCCCCCCCCC | NP_001191727.1:p.Gly468ProfsTer? | |
| NM_172056.2:c.2420_2421insCCCCCCCCCCCCCCCCCCC , LRG_288t2:c.2420_2421insCCCCCCCCCCCCCCCCCCC | NP_742053.1:p.Gly808ProfsTer? | |
| NM_172057.2:c.1378+22_1378+23insCCCCCCCCCCCCCCCCCCC , LRG_288t3:c.1378+22_1378+23insCCCCCCCCCCCCCCCCCCC | NP_742054.1:n.1378+22_1378+23insCCCCCCCCCCCCCCCCCCC | |
| XM_011516185.1:c.2098+22_2098+23insCCCCCCCCCCCCCCCCCCC | XP_011514487.1:n.2098+22_2098+23insCCCCCCCCCCCCCCCCCCC | |
| XM_011516186.1:c.2398+22_2398+23insCCCCCCCCCCCCCCCCCCC | XP_011514488.1:n.2398+22_2398+23insCCCCCCCCCCCCCCCCCCC | |
| XM_011516185.2:c.2098+22_2098+23insCCCCCCCCCCCCCCCCCCC | XP_011514487.1:n.2098+22_2098+23insCCCCCCCCCCCCCCCCCCC | |
| XM_011516186.3:c.2398+22_2398+23insCCCCCCCCCCCCCCCCCCC | XP_011514488.1:n.2398+22_2398+23insCCCCCCCCCCCCCCCCCCC | |
| XM_017012195.1:c.2248+22_2248+23insCCCCCCCCCCCCCCCCCCC | XP_016867684.1:n.2248+22_2248+23insCCCCCCCCCCCCCCCCCCC | |
| XM_017012196.1:c.2221+22_2221+23insCCCCCCCCCCCCCCCCCCC | XP_016867685.1:n.2221+22_2221+23insCCCCCCCCCCCCCCCCCCC | |
| NM_000238.4:c.2398+22_2398+23insCCCCCCCCCCCCCCCCCCC MANE Select | NP_000229.1:n.2398+22_2398+23insCCCCCCCCCCCCCCCCCCC | |
| NM_001204798.2:c.1400_1401insCCCCCCCCCCCCCCCCCCC | NP_001191727.1:p.Gly468ProfsTer? | |
| NM_172057.3:c.1378+22_1378+23insCCCCCCCCCCCCCCCCCCC | NP_742054.1:n.1378+22_1378+23insCCCCCCCCCCCCCCCCCCC |