Linked Data
ClinVar Variation Id:
1638
dbSNP Id:
rs730880264
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.19663333_19663335delinsGGGCTAAAAGTACTGTTGGGG , CM000679.2:g.19663333_19663335delinsGGGCTAAAAGTACTGTTGGGG | GRCh38 |
| NC_000017.10:g.19566646_19566648delinsGGGCTAAAAGTACTGTTGGGG , CM000679.1:g.19566646_19566648delinsGGGCTAAAAGTACTGTTGGGG | GRCh37 |
| NC_000017.9:g.19507238_19507240delinsGGGCTAAAAGTACTGTTGGGG | NCBI36 |
| NG_007095.2:g.19583_19585delinsGGGCTAAAAGTACTGTTGGGG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000176643.11:c.941_943delinsGGGCTAAAAGTACTGTTGGGG MANE Select | ENSP00000176643.6:p.Ala314_Pro315delinsGl... | |
| ENST00000395575.7:c.614_616delinsGGGCTAAAAGTACTGTTGGGG | ENSP00000378942.3:p.Ala205_Pro206delinsGl... | |
| ENST00000472059.6:c.*499_*501delinsGGGCTAAAAGTACTGTTGGGG | ENSP00000458397.1:n.*499_*501delinsGGGCTA... | |
| ENST00000574078.3:n.270_272delinsGGGCTAAAAGTACTGTTGGGG | ||
| ENST00000581518.6:c.941_943delinsGGGCTAAAAGTACTGTTGGGG | ENSP00000461916.2:p.Ala314_Pro315delinsGl... | |
| ENST00000582991.6:c.941_943delinsGGGCTAAAAGTACTGTTGGGG | ENSP00000464153.1:p.Ala314_Pro315delinsGl... | |
| ENST00000671878.1:c.941_943delinsGGGCTAAAAGTACTGTTGGGG | ENSP00000500516.1:p.Ala314_Pro315delinsGl... | |
| ENST00000672059.1:n.1392_1394delinsGGGCTAAAAGTACTGTTGGGG | ||
| ENST00000672357.1:c.941_943delinsGGGCTAAAAGTACTGTTGGGG | ENSP00000500092.1:p.Ala314_Pro315delinsGl... | |
| ENST00000672465.1:c.941_943delinsGGGCTAAAAGTACTGTTGGGG | ENSP00000500517.1:p.Ala314_Pro315delinsGl... | |
| ENST00000672487.1:c.*121_*123delinsGGGCTAAAAGTACTGTTGGGG | ENSP00000500740.1:n.*121_*123delinsGGGCTA... | |
| ENST00000672564.1:n.1162_1164delinsGGGCTAAAAGTACTGTTGGGG | ||
| ENST00000672567.1:c.832_834delinsGGGCTAAAAGTACTGTTGGGG | ||
| ENST00000672591.1:c.1_3delinsGGGCTAAAAGTACTGTTGGGG | ||
| ENST00000672608.1:n.1930_1932delinsGGGCTAAAAGTACTGTTGGGG | ||
| ENST00000672709.1:c.795_797delinsGGGCTAAAAGTACTGTTGGGG | ||
| ENST00000673064.1:n.1441_1443delinsGGGCTAAAAGTACTGTTGGGG | ||
| ENST00000673136.1:c.941_943delinsGGGCTAAAAGTACTGTTGGGG | ENSP00000500380.1:p.Ala314_Pro315delinsGl... | |
| ENST00000673472.1:n.1277_1279delinsGGGCTAAAAGTACTGTTGGGG | ||
| ENST00000673516.1:n.1401_1403delinsGGGCTAAAAGTACTGTTGGGG | ||
| ENST00000176643.10:c.941_943delinsGGGCTAAAAGTACTGTTGGGG | ENSP00000176643.6:p.Ala314_Pro315delinsGl... | |
| ENST00000339618.8:c.941_943delinsGGGCTAAAAGTACTGTTGGGG | ENSP00000345774.4:p.Ala314_Pro315delinsGl... | |
| ENST00000395575.6:c.941_943delinsGGGCTAAAAGTACTGTTGGGG | ENSP00000378942.2:p.Ala314_Pro315delinsGl... | |
| ENST00000472059.5:c.*499_*501delinsGGGCTAAAAGTACTGTTGGGG | ENSP00000458397.1:n.*499_*501delinsGGGCTA... | |
| ENST00000476965.5:n.691_693delinsGGGCTAAAAGTACTGTTGGGG | ||
| ENST00000574078.2:n.270_272delinsGGGCTAAAAGTACTGTTGGGG | ||
| ENST00000578696.1:c.372_374delinsGGGCTAAAAGTACTGTTGGGG | ||
| ENST00000579855.5:c.941_943delinsGGGCTAAAAGTACTGTTGGGG | ENSP00000463637.1:p.Ala314_Pro315delinsGl... | |
| ENST00000581518.5:c.941_943delinsGGGCTAAAAGTACTGTTGGGG | ENSP00000461916.1:p.Ala314_Pro315delinsGl... | |
| ENST00000582991.5:c.941_943delinsGGGCTAAAAGTACTGTTGGGG | ENSP00000464153.1:p.Ala314_Pro315delinsGl... | |
| ENST00000630662.2:c.-41_-39delinsGGGCTAAAAGTACTGTTGGGG | ENSP00000487353.1:n.-41_-39delinsGGGCTAAA... | |
| ENST00000631291.2:c.941_943delinsGGGCTAAAAGTACTGTTGGGG | ENSP00000486085.1:p.Ala314_Pro315delinsGl... | |
| NM_000382.2:c.941_943delinsGGGCTAAAAGTACTGTTGGGG | NP_000373.1:p.Ala314_Pro315delinsGlyAlaLy... | |
| NM_001031806.1:c.941_943delinsGGGCTAAAAGTACTGTTGGGG | NP_001026976.1:p.Ala314_Pro315delinsGlyAl... | |
| XM_011523732.1:c.941_943delinsGGGCTAAAAGTACTGTTGGGG | XP_011522034.1:p.Ala314_Pro315delinsGlyAl... | |
| XM_011523733.1:c.941_943delinsGGGCTAAAAGTACTGTTGGGG | XP_011522035.1:p.Ala314_Pro315delinsGlyAl... | |
| XM_011523733.2:c.941_943delinsGGGCTAAAAGTACTGTTGGGG | XP_011522035.1:p.Ala314_Pro315delinsGlyAl... | |
| XM_017024355.1:c.941_943delinsGGGCTAAAAGTACTGTTGGGG | XP_016879844.1:p.Ala314_Pro315delinsGlyAl... | |
| XM_017024356.2:c.941_943delinsGGGCTAAAAGTACTGTTGGGG | XP_016879845.1:p.Ala314_Pro315delinsGlyAl... | |
| XM_017024357.1:c.941_943delinsGGGCTAAAAGTACTGTTGGGG | XP_016879846.1:p.Ala314_Pro315delinsGlyAl... | |
| XM_017024358.2:c.941_943delinsGGGCTAAAAGTACTGTTGGGG | XP_016879847.1:p.Ala314_Pro315delinsGlyAl... | |
| XM_024450651.1:c.362_364delinsGGGCTAAAAGTACTGTTGGGG | XP_024306419.1:p.Ala121_Pro122delinsGlyAl... | |
| XM_024450652.1:c.362_364delinsGGGCTAAAAGTACTGTTGGGG | XP_024306420.1:p.Ala121_Pro122delinsGlyAl... | |
| NM_000382.3:c.941_943delinsGGGCTAAAAGTACTGTTGGGG MANE Select | NP_000373.1:p.Ala314_Pro315delinsGlyAlaLy... | |
| NM_001031806.2:c.941_943delinsGGGCTAAAAGTACTGTTGGGG | NP_001026976.1:p.Ala314_Pro315delinsGlyAl... | |
| NM_001369136.1:c.941_943delinsGGGCTAAAAGTACTGTTGGGG | NP_001356065.1:p.Ala314_Pro315delinsGlyAl... | |
| NM_001369137.1:c.941_943delinsGGGCTAAAAGTACTGTTGGGG | NP_001356066.1:p.Ala314_Pro315delinsGlyAl... | |
| NM_001369138.1:c.941_943delinsGGGCTAAAAGTACTGTTGGGG | NP_001356067.1:p.Ala314_Pro315delinsGlyAl... | |
| NM_001369139.1:c.941_943delinsGGGCTAAAAGTACTGTTGGGG | NP_001356068.1:p.Ala314_Pro315delinsGlyAl... | |
| NM_001369146.1:c.941_943delinsGGGCTAAAAGTACTGTTGGGG | NP_001356075.1:p.Ala314_Pro315delinsGlyAl... | |
| NM_001369148.1:c.362_364delinsGGGCTAAAAGTACTGTTGGGG | NP_001356077.1:p.Ala121_Pro122delinsGlyAl... | |
| NM_001369137.2:c.941_943delinsGGGCTAAAAGTACTGTTGGGG | NP_001356066.1:p.Ala314_Pro315delinsGlyAl... | |
| NM_001369138.2:c.941_943delinsGGGCTAAAAGTACTGTTGGGG | NP_001356067.1:p.Ala314_Pro315delinsGlyAl... | |
| NM_001369146.2:c.941_943delinsGGGCTAAAAGTACTGTTGGGG | NP_001356075.1:p.Ala314_Pro315delinsGlyAl... | |
| NM_001369148.2:c.362_364delinsGGGCTAAAAGTACTGTTGGGG | NP_001356077.1:p.Ala121_Pro122delinsGlyAl... |