Linked Data
gnomAD v2:
7-150645511-T-TCCCCCCCCCCCCCC
gnomAD v3:
7-150948423-T-TCCCCCCCCCCCCCC
gnomAD v4:
7-150948423-T-TCCCCCCCCCCCCCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150948425_150948426insCCCCCCCCCCCCCC , CM000669.2:g.150948425_150948426insCCCCCCCCCCCCCC | GRCh38 |
| NC_000007.13:g.150645513_150645514insCCCCCCCCCCCCCC , CM000669.1:g.150645513_150645514insCCCCCCCCCCCCCC | GRCh37 |
| NC_000007.12:g.150276446_150276447insCCCCCCCCCCCCCC | NCBI36 |
| NG_008916.1:g.34503_34504insGGGGGGGGGGGGGG , LRG_288:g.34503_34504insGGGGGGGGGGGGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3525+20_3525+21insGGGGGGGGGGGGGG | ||
| ENST00000262186.10:c.2692+20_2692+21insGGGGGGGGGGGGGG MANE Select | ENSP00000262186.5:n.2692+20_2692+21insGGGGGGGGGGGGGG | |
| ENST00000330883.9:c.1672+20_1672+21insGGGGGGGGGGGGGG | ENSP00000328531.4:n.1672+20_1672+21insGGGGGGGGGGGGGG | |
| ENST00000262186.9:c.2692+20_2692+21insGGGGGGGGGGGGGG | ENSP00000262186.5:n.2692+20_2692+21insGGGGGGGGGGGGGG | |
| ENST00000330883.8:c.1672+20_1672+21insGGGGGGGGGGGGGG | ENSP00000328531.4:n.1672+20_1672+21insGGGGGGGGGGGGGG | |
| NM_000238.3:c.2692+20_2692+21insGGGGGGGGGGGGGG , LRG_288t1:c.2692+20_2692+21insGGGGGGGGGGGGGG | NP_000229.1:n.2692+20_2692+21insGGGGGGGGGGGGGG | |
| NM_172057.2:c.1672+20_1672+21insGGGGGGGGGGGGGG , LRG_288t3:c.1672+20_1672+21insGGGGGGGGGGGGGG | NP_742054.1:n.1672+20_1672+21insGGGGGGGGGGGGGG | |
| XM_011516185.1:c.2392+20_2392+21insGGGGGGGGGGGGGG | XP_011514487.1:n.2392+20_2392+21insGGGGGGGGGGGGGG | |
| XM_011516186.1:c.2692+20_2692+21insGGGGGGGGGGGGGG | XP_011514488.1:n.2692+20_2692+21insGGGGGGGGGGGGGG | |
| XM_011516185.2:c.2392+20_2392+21insGGGGGGGGGGGGGG | XP_011514487.1:n.2392+20_2392+21insGGGGGGGGGGGGGG | |
| XM_011516186.3:c.2692+20_2692+21insGGGGGGGGGGGGGG | XP_011514488.1:n.2692+20_2692+21insGGGGGGGGGGGGGG | |
| XM_017012195.1:c.2542+20_2542+21insGGGGGGGGGGGGGG | XP_016867684.1:n.2542+20_2542+21insGGGGGGGGGGGGGG | |
| XM_017012196.1:c.2515+20_2515+21insGGGGGGGGGGGGGG | XP_016867685.1:n.2515+20_2515+21insGGGGGGGGGGGGGG | |
| NM_000238.4:c.2692+20_2692+21insGGGGGGGGGGGGGG MANE Select | NP_000229.1:n.2692+20_2692+21insGGGGGGGGGGGGGG | |
| NM_172057.3:c.1672+20_1672+21insGGGGGGGGGGGGGG | NP_742054.1:n.1672+20_1672+21insGGGGGGGGGGGGGG |