Linked Data
dbSNP Id:
rs1366489792
gnomAD v2:
18-28669142-A-AC
gnomAD v3:
18-31089179-A-AC
gnomAD v4:
18-31089179-A-AC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31089179_31089180insC , CM000680.2:g.31089179_31089180insC | GRCh38 |
| NC_000018.9:g.28669142_28669143insC , CM000680.1:g.28669142_28669143insC | GRCh37 |
| NC_000018.8:g.26923140_26923141insC | NCBI36 |
| NG_008208.2:g.18246_18247insG , LRG_400:g.18246_18247insG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682357.1:c.201+259_201+260insG | ENSP00000507826.1:n.201+259_201+260insG | |
| ENST00000251081.8:c.630+259_630+260insG | ENSP00000251081.6:n.630+259_630+260insG | |
| ENST00000280904.11:c.630+259_630+260insG MANE Select | ENSP00000280904.6:n.630+259_630+260insG | |
| ENST00000648081.1:c.201+259_201+260insG | ENSP00000497441.1:n.201+259_201+260insG | |
| ENST00000251081.6:c.630+259_630+260insG | ENSP00000251081.6:n.630+259_630+260insG | |
| ENST00000280904.10:c.630+259_630+260insG | ENSP00000280904.6:n.630+259_630+260insG | |
| NM_004949.4:c.630+259_630+260insG | NP_004940.1:n.630+259_630+260insG | |
| NM_024422.4:c.630+259_630+260insG | NP_077740.1:n.630+259_630+260insG | |
| XM_005258206.3:c.201+259_201+260insG | XP_005258263.1:n.201+259_201+260insG | |
| XM_005258206.4:c.201+259_201+260insG | XP_005258263.1:n.201+259_201+260insG | |
| NM_004949.5:c.630+259_630+260insG | NP_004940.1:n.630+259_630+260insG | |
| NM_024422.6:c.630+259_630+260insG MANE Select | NP_077740.1:n.630+259_630+260insG |