Linked Data
dbSNP Id:
rs2116710613
gnomAD v3:
7-147877732-T-TGGGGGG
gnomAD v4:
7-147877732-T-TGGGGGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.147877732_147877733insGGGGGG , CM000669.2:g.147877732_147877733insGGGGGG | GRCh38 |
| NC_000007.13:g.147574824_147574825insGGGGGG , CM000669.1:g.147574824_147574825insGGGGGG | GRCh37 |
| NC_000007.12:g.147205757_147205758insGGGGGG | NCBI36 |
| NG_007092.2:g.1766372_1766373insGGGGGG | |
| NG_007092.3:g.1766732_1766733insGGGGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361727.8:c.2099-25833_2099-25832insGGGGGG MANE Select | ENSP00000354778.3:n.2099-25833_2099-25832insGGGGGG | |
| ENST00000636870.1:n.1961-25833_1961-25832insGGGGGG | ||
| ENST00000637825.1:n.1582-25833_1582-25832insGGGGGG | ||
| ENST00000361727.7:c.2099-25833_2099-25832insGGGGGG | ENSP00000354778.3:n.2099-25833_2099-25832insGGGGGG | |
| ENST00000455301.2:n.34-25833_34-25832insGGGGGG | ||
| ENST00000627772.2:n.272-25833_272-25832insGGGGGG | ||
| NM_014141.5:c.2099-25833_2099-25832insGGGGGG | NP_054860.1:n.2099-25833_2099-25832insGGGGGG | |
| XM_006715919.1:c.587-25833_587-25832insGGGGGG | XP_006715982.1:n.587-25833_587-25832insGGGGGG | |
| NM_014141.6:c.2099-25833_2099-25832insGGGGGG MANE Select | NP_054860.1:n.2099-25833_2099-25832insGGGGGG |