Linked Data
ClinVar Variation Id:
517252
dbSNP Id:
rs1220133830
gnomAD v2:
19-41107342-G-GCGCAGCTAGGGC
gnomAD v3:
19-40601436-G-GCGCAGCTAGGGC
gnomAD v4:
19-40601436-G-GCGCAGCTAGGGC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40601443_40601454dup , CM000681.2:g.40601443_40601454dup | GRCh38 |
| NC_000019.9:g.41107349_41107360dup , CM000681.1:g.41107349_41107360dup | GRCh37 |
| NC_000019.8:g.45799189_45799200dup | NCBI36 |
| NG_021201.1:g.13278_13289dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396819.8:c.56_67dup MANE Select | ENSP00000380031.5:p.Gln22_Pro23insLeuGlyProGln | |
| ENST00000204005.13:c.340+1266_340+1277dup | ENSP00000204005.10:n.340+1266_340+1277dup | |
| ENST00000308370.11:c.451+1266_451+1277dup | ENSP00000311905.8:n.451+1266_451+1277dup | |
| ENST00000396819.7:c.56_67dup | ENSP00000380031.4:p.Gln22_Pro23insLeuGlyProGln | |
| ENST00000593738.1:n.194+1266_194+1277dup | ||
| ENST00000594537.2:c.*186+1266_*186+1277dup | ENSP00000480629.1:n.*186+1266_*186+1277dup | |
| ENST00000598717.5:n.428+1340_428+1351dup | ||
| ENST00000599016.5:c.*186+1266_*186+1277dup | ENSP00000482179.1:n.*186+1266_*186+1277dup | |
| ENST00000600026.5:c.*186+1266_*186+1277dup | ENSP00000483230.1:n.*186+1266_*186+1277dup | |
| NM_001042544.1:c.451+1266_451+1277dup | NP_001036009.1:n.451+1266_451+1277dup | |
| NM_001042545.1:c.56_67dup | NP_001036010.1:p.Gln22_Pro23insLeuGlyProGln | |
| NM_003573.2:c.340+1266_340+1277dup | NP_003564.2:n.340+1266_340+1277dup | |
| XM_011527376.1:c.451+1266_451+1277dup | XP_011525678.1:n.451+1266_451+1277dup | |
| XM_011527377.1:c.484+1266_484+1277dup | XP_011525679.1:n.484+1266_484+1277dup | |
| XM_011527378.1:c.484+1266_484+1277dup | XP_011525680.1:n.484+1266_484+1277dup | |
| XM_011527379.1:c.56_67dup | XP_011525681.1:p.Gln22_Pro23insLeuGlyProGln | |
| XM_011527380.1:c.484+1266_484+1277dup | XP_011525682.1:n.484+1266_484+1277dup | |
| XM_011527381.1:c.484+1266_484+1277dup | XP_011525683.1:n.484+1266_484+1277dup | |
| XM_011527382.1:c.484+1266_484+1277dup | XP_011525684.1:n.484+1266_484+1277dup | |
| XM_011527383.1:c.484+1266_484+1277dup | XP_011525685.1:n.484+1266_484+1277dup | |
| XM_011527384.1:c.484+1266_484+1277dup | XP_011525686.1:n.484+1266_484+1277dup | |
| XM_011527385.1:c.484+1266_484+1277dup | XP_011525687.1:n.484+1266_484+1277dup | |
| XM_011527386.1:c.484+1266_484+1277dup | XP_011525688.1:n.484+1266_484+1277dup | |
| XM_011527387.1:c.-159+1266_-159+1277dup | XP_011525689.1:n.-159+1266_-159+1277dup | |
| XM_011527376.2:c.451+1266_451+1277dup | XP_011525678.1:n.451+1266_451+1277dup | |
| XM_011527377.2:c.484+1266_484+1277dup | XP_011525679.1:n.484+1266_484+1277dup | |
| XM_011527378.2:c.484+1266_484+1277dup | XP_011525680.1:n.484+1266_484+1277dup | |
| XM_011527380.2:c.484+1266_484+1277dup | XP_011525682.1:n.484+1266_484+1277dup | |
| XM_011527381.2:c.484+1266_484+1277dup | XP_011525683.1:n.484+1266_484+1277dup | |
| XM_011527382.2:c.484+1266_484+1277dup | XP_011525684.1:n.484+1266_484+1277dup | |
| XM_011527383.2:c.484+1266_484+1277dup | XP_011525685.1:n.484+1266_484+1277dup | |
| XM_011527384.2:c.484+1266_484+1277dup | XP_011525686.1:n.484+1266_484+1277dup | |
| XM_011527385.2:c.484+1266_484+1277dup | XP_011525687.1:n.484+1266_484+1277dup | |
| XM_011527386.2:c.484+1266_484+1277dup | XP_011525688.1:n.484+1266_484+1277dup | |
| XM_017027352.1:c.484+1266_484+1277dup | XP_016882841.1:n.484+1266_484+1277dup | |
| XM_017027353.1:c.484+1266_484+1277dup | XP_016882842.1:n.484+1266_484+1277dup | |
| XM_017027354.1:c.484+1266_484+1277dup | XP_016882843.1:n.484+1266_484+1277dup | |
| NM_001042545.2:c.56_67dup MANE Select | NP_001036010.1:p.Gln22_Pro23insLeuGlyProGln |