Linked Data
dbSNP Id:
rs1344422215
gnomAD v3:
10-101775054-G-GCCACCATCCCCACC
gnomAD v4:
10-101775054-G-GCCACCATCCCCACC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.101775065_101775066insACCCCACCATCCCC , CM000672.2:g.101775065_101775066insACCCCACCATCCCC | GRCh38 |
| NC_000010.10:g.103534822_103534823insACCCCACCATCCCC , CM000672.1:g.103534822_103534823insACCCCACCATCCCC | GRCh37 |
| NC_000010.9:g.103524812_103524813insACCCCACCATCCCC | NCBI36 |
| NG_007151.1:g.6016_6017insGGTGGGGATGGTGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320185.7:c.156+75_156+76insGGTGGGGATGGTGG MANE Select | ENSP00000321797.2:n.156+75_156+76insGGTGGGGATGGTGG | |
| ENST00000618991.5:c.-123-176_-123-175insGGTGGGGATGGTGG | ENSP00000484420.1:n.-123-176_-123-175insGGTGGGGATGGTGG | |
| ENST00000344255.8:c.156+75_156+76insGGTGGGGATGGTGG | ENSP00000340039.3:n.156+75_156+76insGGTGGGGATGGTGG | |
| ENST00000320185.6:c.156+75_156+76insGGTGGGGATGGTGG | ENSP00000321797.2:n.156+75_156+76insGGTGGGGATGGTGG | |
| ENST00000344255.7:c.156+75_156+76insGGTGGGGATGGTGG | ENSP00000340039.3:n.156+75_156+76insGGTGGGGATGGTGG | |
| ENST00000346714.7:c.70-176_70-175insGGTGGGGATGGTGG | ENSP00000344306.3:n.70-176_70-175insGGTGGGGATGGTGG | |
| ENST00000347978.2:c.70-143_70-142insGGTGGGGATGGTGG | ENSP00000321945.2:n.70-143_70-142insGGTGGGGATGGTGG | |
| ENST00000469792.6:c.*154-176_*154-175insGGTGGGGATGGTGG | ENSP00000473299.1:n.*154-176_*154-175insGGTGGGGATGGTGG | |
| ENST00000485728.1:n.33-143_33-142insGGTGGGGATGGTGG | ||
| ENST00000618991.4:c.-123-176_-123-175insGGTGGGGATGGTGG | ENSP00000484420.1:n.-123-176_-123-175insGGTGGGGATGGTGG | |
| NM_001206389.1:c.-123-176_-123-175insGGTGGGGATGGTGG | NP_001193318.1:n.-123-176_-123-175insGGTGGGGATGGTGG | |
| NM_006119.4:c.70-143_70-142insGGTGGGGATGGTGG | NP_006110.1:n.70-143_70-142insGGTGGGGATGGTGG | |
| NM_033163.3:c.156+75_156+76insGGTGGGGATGGTGG | NP_149353.1:n.156+75_156+76insGGTGGGGATGGTGG | |
| NM_033164.3:c.156+75_156+76insGGTGGGGATGGTGG | NP_149354.1:n.156+75_156+76insGGTGGGGATGGTGG | |
| NM_033165.3:c.70-176_70-175insGGTGGGGATGGTGG | NP_149355.1:n.70-176_70-175insGGTGGGGATGGTGG | |
| XM_011539509.1:c.79-143_79-142insGGTGGGGATGGTGG | XP_011537811.1:n.79-143_79-142insGGTGGGGATGGTGG | |
| NM_006119.5:c.70-143_70-142insGGTGGGGATGGTGG | NP_006110.1:n.70-143_70-142insGGTGGGGATGGTGG | |
| NM_033163.4:c.156+75_156+76insGGTGGGGATGGTGG | NP_149353.1:n.156+75_156+76insGGTGGGGATGGTGG | |
| NM_033164.4:c.156+75_156+76insGGTGGGGATGGTGG | NP_149354.1:n.156+75_156+76insGGTGGGGATGGTGG | |
| NM_033165.4:c.70-176_70-175insGGTGGGGATGGTGG | NP_149355.1:n.70-176_70-175insGGTGGGGATGGTGG | |
| NM_001206389.2:c.-123-176_-123-175insGGTGGGGATGGTGG | NP_001193318.1:n.-123-176_-123-175insGGTGGGGATGGTGG | |
| NM_006119.6:c.70-143_70-142insGGTGGGGATGGTGG | NP_006110.1:n.70-143_70-142insGGTGGGGATGGTGG | |
| NM_033163.5:c.156+75_156+76insGGTGGGGATGGTGG MANE Select | NP_149353.1:n.156+75_156+76insGGTGGGGATGGTGG | |
| NM_033165.5:c.70-176_70-175insGGTGGGGATGGTGG | NP_149355.1:n.70-176_70-175insGGTGGGGATGGTGG |