Linked Data
ClinVar Variation Id:
2059757
ClinVar RCV Id:
RCV002957251
dbSNP Id:
rs3217229
gnomAD v2:
19-11558340-A-AGAGGAG
gnomAD v3:
19-11447525-A-AGAGGAG
gnomAD v4:
19-11447525-A-AGAGGAG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11447552_11447557dup , CM000681.2:g.11447552_11447557dup | GRCh38 |
| NC_000019.9:g.11558367_11558372dup , CM000681.1:g.11558367_11558372dup | GRCh37 |
| NC_000019.8:g.11419367_11419372dup | NCBI36 |
| NG_009300.1:g.17099_17104dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000591462.6:c.963_968dup | ENSP00000465489.1:p.Glu323_Glu324insGluGlu | |
| ENST00000677123.1:c.963_968dup MANE Select | ENSP00000503163.1:p.Glu323_Glu324insGluGlu | |
| ENST00000585325.5:n.236_241dup | ||
| ENST00000585540.1:n.154_159dup | ||
| ENST00000587327.5:c.963_968dup | ENSP00000466012.1:p.Glu323_Glu324insGluGlu | |
| ENST00000589838.5:c.963_968dup | ENSP00000465461.1:p.Glu323_Glu324insGluGlu | |
| ENST00000591462.5:c.963_968dup | ENSP00000465489.1:p.Glu323_Glu324insGluGlu | |
| ENST00000592445.1:n.210_215dup | ||
| ENST00000592741.5:c.963_968dup | ENSP00000466134.1:p.Glu323_Glu324insGluGlu | |
| NM_001001329.2:c.963_968dup | NP_001001329.1:p.Glu323_Glu324insGluGlu | |
| NM_001289102.1:c.963_968dup | NP_001276031.1:p.Glu323_Glu324insGluGlu | |
| NM_001289103.1:c.963_968dup | NP_001276032.1:p.Glu323_Glu324insGluGlu | |
| NM_001289104.1:c.963_968dup | NP_001276033.1:p.Glu323_Glu324insGluGlu | |
| NM_002743.3:c.963_968dup | NP_002734.2:p.Glu323_Glu324insGluGlu | |
| XM_011528130.1:c.963_968dup | XP_011526432.1:p.Glu323_Glu324insGluGlu | |
| XM_011528131.1:c.963_968dup | XP_011526433.1:p.Glu323_Glu324insGluGlu | |
| XM_011528132.1:c.963_968dup | XP_011526434.1:p.Glu323_Glu324insGluGlu | |
| XM_017026977.2:c.963_968dup | XP_016882466.1:p.Glu323_Glu324insGluGlu | |
| XM_024451602.1:c.963_968dup | XP_024307370.1:p.Glu323_Glu324insGluGlu | |
| NM_001001329.3:c.963_968dup | NP_001001329.1:p.Glu323_Glu324insGluGlu | |
| NM_001289102.2:c.963_968dup | NP_001276031.1:p.Glu323_Glu324insGluGlu | |
| NM_001289103.2:c.963_968dup | NP_001276032.1:p.Glu323_Glu324insGluGlu | |
| NM_001289104.2:c.963_968dup MANE Select | NP_001276033.1:p.Glu323_Glu324insGluGlu | |
| NM_001379608.1:c.963_968dup | NP_001366537.1:p.Glu323_Glu324insGluGlu | |
| NM_001379609.1:c.963_968dup | NP_001366538.1:p.Glu323_Glu324insGluGlu |