Linked Data
dbSNP Id:
rs1762501605
gnomAD v3:
6-1610011-C-CGGGGGGGGGGGGG
gnomAD v4:
6-1610011-C-CGGGGGGGGGGGGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1610012_1610013insGGGGGGGGGGGGG , CM000668.2:g.1610012_1610013insGGGGGGGGGGGGG | GRCh38 |
| NC_000006.11:g.1610247_1610248insGGGGGGGGGGGGG , CM000668.1:g.1610247_1610248insGGGGGGGGGGGGG | GRCh37 |
| NC_000006.10:g.1555246_1555247insGGGGGGGGGGGGG | NCBI36 |
| NG_009368.1:g.4567_4568insGGGGGGGGGGGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645831.2:c.-434_-433insGGGGGGGGGGGGG MANE Select | ENSP00000493906.1:n.-434_-433insGGGGGGGGGGGGG | |
| ENST00000380874.3:c.-434_-433insGGGGGGGGGGGGG | ENSP00000370256.2:n.-434_-433insGGGGGGGGGGGGG | |
| NM_001453.3:c.-434_-433insGGGGGGGGGGGGG MANE Select | NP_001444.2:n.-434_-433insGGGGGGGGGGGGG |