Linked Data
ClinVar Variation Id:
56620
dbSNP Id:
rs386834047
ExAC:
17:56293472 CAG / C
gnomAD v2:
17-56293472-CAG-C
gnomAD v3:
17-58216111-CAG-C
gnomAD v4:
17-58216111-CAG-C
PubMed:
PMID:19466712
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58216114_58216115del , CM000679.2:g.58216114_58216115del | GRCh38 |
| NC_000017.10:g.56293475_56293476del , CM000679.1:g.56293475_56293476del | GRCh37 |
| NC_000017.9:g.53648474_53648475del | NCBI36 |
| NG_013032.1:g.8493_8494del , LRG_687:g.8493_8494del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000313863.11:c.392_393del | ENSP00000316631.6:p.Ser131Ter | |
| ENST00000393119.7:c.392_393del MANE Select | ENSP00000376827.2:p.Ser131Ter | |
| ENST00000537529.7:c.-38_-37del | ENSP00000442096.3:n.-38_-37del | |
| ENST00000580127.6:c.392_393del | ENSP00000462423.2:p.Ser131Ter | |
| ENST00000581180.2:c.392_393del | ENSP00000502288.1:p.Ser131Ter | |
| ENST00000581761.6:c.392_393del | ENSP00000462129.2:p.Ser131Ter | |
| ENST00000585134.2:c.392_393del | ENSP00000463826.2:p.Ser131Ter | |
| ENST00000675753.2:c.392_393del | ENSP00000502156.1:p.Ser131Ter | |
| ENST00000676787.1:c.392_393del | ENSP00000503999.1:p.Ser131Ter | |
| ENST00000676975.1:c.53_54del | ENSP00000503970.1:p.Ser18Ter | |
| ENST00000677076.1:n.417_418del | ||
| ENST00000677111.1:c.392_393del | ENSP00000504282.1:p.Ser131Ter | |
| ENST00000677160.1:n.417_418del | ||
| ENST00000677416.1:n.417_418del | ||
| ENST00000677475.1:n.420_421del | ||
| ENST00000677486.1:c.261+553_261+554del | ENSP00000503852.1:n.261+553_261+554del | |
| ENST00000677546.1:c.392_393del | ENSP00000504043.1:p.Ser131Ter | |
| ENST00000677709.1:n.417_418del | ||
| ENST00000677791.1:n.420_421del | ||
| ENST00000678011.1:n.417_418del | ||
| ENST00000678211.1:n.839_840del | ||
| ENST00000678432.1:c.392_393del | ENSP00000504452.1:p.Ser131Ter | |
| ENST00000678463.1:c.392_393del | ENSP00000502984.1:p.Ser131Ter | |
| ENST00000678481.1:n.420_421del | ||
| ENST00000678568.1:c.191-1275_191-1274del | ENSP00000504754.1:n.191-1275_191-1274del | |
| ENST00000678641.1:c.392_393del | ENSP00000503159.1:p.Ser131Ter | |
| ENST00000678928.1:n.417_418del | ||
| ENST00000679081.1:n.417_418del | ||
| ENST00000313863.10:c.392_393del | ENSP00000316631.6:p.Ser131Ter | |
| ENST00000393119.6:c.392_393del | ENSP00000376827.2:p.Ser131Ter | |
| ENST00000393120.6:c.392_393del | ENSP00000376828.2:p.Ser131Ter | |
| ENST00000537529.6:c.362_363del | ENSP00000442096.2:p.Ser121Ter | |
| ENST00000578789.1:c.*135_*136del | ENSP00000462411.1:n.*135_*136del | |
| ENST00000580127.5:c.392_393del | ENSP00000462423.1:p.Ser131Ter | |
| ENST00000581180.1:n.392_393del | ||
| ENST00000581761.5:c.191-1275_191-1274del | ENSP00000462129.1:n.191-1275_191-1274del | |
| NM_001165927.1:c.362_363del , LRG_687t2:c.362_363del | NP_001159399.1:p.Ser121Ter | |
| NM_017777.3:c.392_393del , LRG_687t1:c.392_393del | NP_060247.2:p.Ser131Ter | |
| XM_005257483.3:c.392_393del | XP_005257540.1:p.Ser131Ter | |
| XM_005257485.3:c.-98_-97del | XP_005257542.1:n.-98_-97del | |
| XM_005257486.3:c.-120_-119del | XP_005257543.1:n.-120_-119del | |
| XM_006721965.2:c.-120_-119del | XP_006722028.1:n.-120_-119del | |
| XM_011524957.1:c.401_402del | XP_011523259.1:p.Ser134Ter | |
| XM_011524958.1:c.401_402del | XP_011523260.1:p.Ser134Ter | |
| XM_011524959.1:c.401_402del | XP_011523261.1:p.Ser134Ter | |
| XM_011524960.1:c.401_402del | XP_011523262.1:p.Ser134Ter | |
| XR_934494.1:n.449_450del | ||
| NM_001321268.1:c.-120_-119del | NP_001308197.1:n.-120_-119del | |
| NM_001321269.1:c.392_393del | NP_001308198.1:p.Ser131Ter | |
| NM_001330397.1:c.392_393del | NP_001317326.1:p.Ser131Ter | |
| XM_005257485.4:c.-98_-97del | XP_005257542.1:n.-98_-97del | |
| XM_006721965.3:c.-120_-119del | XP_006722028.1:n.-120_-119del | |
| XM_011524957.2:c.401_402del | XP_011523259.1:p.Ser134Ter | |
| XM_011524958.2:c.401_402del | XP_011523260.1:p.Ser134Ter | |
| XM_011524959.2:c.401_402del | XP_011523261.1:p.Ser134Ter | |
| XM_011524960.2:c.401_402del | XP_011523262.1:p.Ser134Ter | |
| XM_017024804.2:c.392_393del | XP_016880293.1:p.Ser131Ter | |
| XM_017024805.1:c.-98_-97del | XP_016880294.1:n.-98_-97del | |
| XR_002958042.1:n.446_447del | ||
| NM_001321268.2:c.-120_-119del | NP_001308197.1:n.-120_-119del | |
| NM_001321269.2:c.392_393del | NP_001308198.1:p.Ser131Ter | |
| NM_001330397.2:c.392_393del | NP_001317326.1:p.Ser131Ter | |
| NM_017777.4:c.392_393del MANE Select | NP_060247.2:p.Ser131Ter |