Canonical Allele Identifier: CA16618336
Gene: SNX14 HGNC NCBI

Linked Data

ClinVar Variation Id: 419155
dbSNP Id: rs1064793681

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.85507269_85507275del , CM000668.2:g.85507269_85507275del GRCh38
NC_000006.11:g.86216987_86216993del , CM000668.1:g.86216987_86216993del GRCh37
NC_000006.10:g.86273706_86273712del NCBI36
NG_047171.1:g.91886_91892del

Transcript Alleles

HGVS Amino-acid Change
ENST00000418862.2:c.892_898del ENSP00000391981.2:p.Asp298Ter
ENST00000508658.6:c.2764_2770del ENSP00000422814.2:p.Asp922Ter
ENST00000509338.6:c.1885_1891del ENSP00000424302.2:p.Asp629Ter
ENST00000514801.2:n.1981_1987del
ENST00000515216.6:c.2746-15_2746-9del ENSP00000425630.2:n.2746-15_2746-9del
ENST00000681965.1:c.3902_3908del ENSP00000507317.1:n.3902_3908del
ENST00000681981.1:c.2680_2686del ENSP00000507672.1:p.Asp894Ter
ENST00000682022.1:c.*2656_*2662del ENSP00000508118.1:n.*2656_*2662del
ENST00000682023.1:c.*2387_*2393del ENSP00000507998.1:n.*2387_*2393del
ENST00000682034.1:c.*1931_*1937del ENSP00000506724.1:n.*1931_*1937del
ENST00000682057.1:c.*2193_*2199del ENSP00000507883.1:n.*2193_*2199del
ENST00000682083.1:c.*2674_*2680del ENSP00000506859.1:n.*2674_*2680del
ENST00000682106.1:n.5278_5284del
ENST00000682133.1:c.*327_*333del ENSP00000507001.1:n.*327_*333del
ENST00000682171.1:c.2605_2611del ENSP00000508327.1:p.Asp869Ter
ENST00000682174.1:c.*2387_*2393del ENSP00000507248.1:n.*2387_*2393del
ENST00000682374.1:c.*1310_*1316del ENSP00000507425.1:n.*1310_*1316del
ENST00000682412.1:c.2604_2610del ENSP00000507297.1:n.2604_2610del
ENST00000682454.1:c.*2127_*2133del ENSP00000507851.1:n.*2127_*2133del
ENST00000682455.1:c.*3742_*3748del ENSP00000507586.1:n.*3742_*3748del
ENST00000682464.1:c.*327_*333del ENSP00000507625.1:n.*327_*333del
ENST00000682491.1:c.2476_2482del ENSP00000506970.1:p.Asp826Ter
ENST00000682497.1:c.2761_2767del ENSP00000507869.1:p.Asp921Ter
ENST00000682504.1:c.*2670_*2676del ENSP00000507623.1:n.*2670_*2676del
ENST00000682514.1:n.8551_8557del
ENST00000682594.1:n.3380_3386del
ENST00000682633.1:c.*327_*333del ENSP00000507843.1:n.*327_*333del
ENST00000682660.1:c.2503_2509del ENSP00000507539.1:p.Asp835Ter
ENST00000682682.1:c.2599_2605del ENSP00000507777.1:p.Asp867Ter
ENST00000682688.1:c.*1769_*1775del ENSP00000507097.1:n.*1769_*1775del
ENST00000682694.1:c.*2127_*2133del ENSP00000507387.1:n.*2127_*2133del
ENST00000682709.1:n.8683_8689del
ENST00000682738.1:c.2572_2578del ENSP00000507742.1:p.Asp858Ter
ENST00000682776.1:c.*1515_*1521del ENSP00000507490.1:n.*1515_*1521del
ENST00000682854.1:c.*2752_*2758del ENSP00000507257.1:n.*2752_*2758del
ENST00000682878.1:c.*2452_*2458del ENSP00000507360.1:n.*2452_*2458del
ENST00000682926.1:n.2171_2177del
ENST00000682939.1:c.2476_2482del ENSP00000506902.1:p.Asp826Ter
ENST00000682991.1:c.2545_2551del ENSP00000508193.1:p.Asp849Ter
ENST00000682995.1:c.*1488_*1494del ENSP00000506807.1:n.*1488_*1494del
ENST00000683073.1:c.*882_*888del ENSP00000507270.1:n.*882_*888del
ENST00000683074.1:c.*2674_*2680del ENSP00000507008.1:n.*2674_*2680del
ENST00000683085.1:c.*839_*845del ENSP00000507993.1:n.*839_*845del
ENST00000683097.1:c.*1134_*1140del ENSP00000507556.1:n.*1134_*1140del
ENST00000683126.1:c.*2284_*2290del ENSP00000507507.1:n.*2284_*2290del
ENST00000683195.1:c.*2127_*2133del ENSP00000508190.1:n.*2127_*2133del
ENST00000683196.1:c.*2127_*2133del ENSP00000508297.1:n.*2127_*2133del
ENST00000683364.1:c.*2634_*2640del ENSP00000507791.1:n.*2634_*2640del
ENST00000683436.1:c.*1795_*1801del ENSP00000506874.1:n.*1795_*1801del
ENST00000683458.1:c.*1515_*1521del ENSP00000508204.1:n.*1515_*1521del
ENST00000683473.1:n.3875_3881del
ENST00000683479.1:c.2764_2770del ENSP00000507368.1:p.Asp922Ter
ENST00000683481.1:c.*1646_*1652del ENSP00000507015.1:n.*1646_*1652del
ENST00000683541.1:c.2761_2767del ENSP00000507116.1:p.Asp921Ter
ENST00000683542.1:c.*2288_*2294del ENSP00000506893.1:n.*2288_*2294del
ENST00000683577.1:c.*327_*333del ENSP00000507516.1:n.*327_*333del
ENST00000683583.1:c.*5178_*5184del ENSP00000507244.1:n.*5178_*5184del
ENST00000683643.1:c.2632_2638del ENSP00000507444.1:p.Asp878Ter
ENST00000683698.1:c.*2280_*2286del ENSP00000507000.1:n.*2280_*2286del
ENST00000683726.1:c.*2284_*2290del ENSP00000507744.1:n.*2284_*2290del
ENST00000683754.1:c.2683_2689del ENSP00000507707.1:p.Asp895Ter
ENST00000683763.1:n.1462_1468del
ENST00000683785.1:c.2629_2635del ENSP00000507188.1:p.Asp877Ter
ENST00000683803.1:c.*1515_*1521del ENSP00000508216.1:n.*1515_*1521del
ENST00000683857.1:c.*2193_*2199del ENSP00000508015.1:n.*2193_*2199del
ENST00000683873.1:c.*2339_*2345del ENSP00000506829.1:n.*2339_*2345del
ENST00000683878.1:c.*2045_*2051del ENSP00000507449.1:n.*2045_*2051del
ENST00000683880.1:c.*2288_*2294del ENSP00000508357.1:n.*2288_*2294del
ENST00000683898.1:c.2599_2605del ENSP00000506897.1:p.Asp867Ter
ENST00000683909.1:n.4794_4800del
ENST00000684017.1:n.8276_8282del
ENST00000684108.1:n.8683_8689del
ENST00000684118.1:c.2743-15_2743-9del ENSP00000507950.1:n.2743-15_2743-9del
ENST00000684150.1:c.2605_2611del ENSP00000507401.1:p.Asp869Ter
ENST00000684220.1:c.*2634_*2640del ENSP00000507382.1:n.*2634_*2640del
ENST00000684239.1:c.*2389_*2395del ENSP00000507479.1:n.*2389_*2395del
ENST00000684273.1:c.*2257_*2263del ENSP00000508063.1:n.*2257_*2263del
ENST00000684281.1:c.2413_2419del ENSP00000507932.1:p.Asp805Ter
ENST00000684299.1:c.*327_*333del ENSP00000507637.1:n.*327_*333del
ENST00000684319.1:c.*327_*333del ENSP00000508346.1:n.*327_*333del
ENST00000684422.1:c.*2437_*2443del ENSP00000507146.1:n.*2437_*2443del
ENST00000684451.1:c.*2069_*2075del ENSP00000507384.1:n.*2069_*2075del
ENST00000684570.1:c.2827_2833del ENSP00000508127.1:p.Asp943Ter
ENST00000684581.1:c.*585_*591del ENSP00000507294.1:n.*585_*591del
ENST00000684647.1:c.2473_2479del ENSP00000506873.1:p.Asp825Ter
ENST00000684680.1:c.2389_2395del ENSP00000507491.1:p.Asp797Ter
ENST00000684717.1:c.2881_2887del ENSP00000507024.1:p.Asp961Ter
ENST00000314673.8:c.2764_2770del MANE Select ENSP00000313121.3:p.Asp922Ter
ENST00000314673.7:c.2764_2770del ENSP00000313121.3:p.Asp922Ter
ENST00000346348.7:c.2605_2611del ENSP00000257769.3:p.Asp869Ter
ENST00000369627.6:c.2737_2743del ENSP00000358641.2:p.Asp913Ter
ENST00000474645.6:n.509_515del
ENST00000503491.5:n.3253_3259del
ENST00000505648.5:c.2608_2614del ENSP00000427380.1:p.Asp870Ter
ENST00000508658.5:c.480_486del
ENST00000508980.5:n.3370_3376del
ENST00000513865.5:c.1921_1927del ENSP00000420938.1:p.Asp641Ter
NM_001297614.2:c.2737_2743del NP_001284543.1:p.Asp913Ter
NM_001304479.1:c.2608_2614del NP_001291408.1:p.Asp870Ter
NM_020468.5:c.2605_2611del NP_065201.1:p.Asp869Ter
NM_153816.5:c.2764_2770del NP_722523.1:p.Asp922Ter
XM_005248738.3:c.2761_2767del XP_005248795.1:p.Asp921Ter
XM_005248740.3:c.2632_2638del XP_005248797.1:p.Asp878Ter
XM_011535978.1:c.2545_2551del XP_011534280.1:p.Asp849Ter
XM_011535979.1:c.2476_2482del XP_011534281.1:p.Asp826Ter
XM_011535980.1:c.1609_1615del XP_011534282.1:p.Asp537Ter
XR_942523.1:n.2872_2878del
NM_001350532.1:c.2827_2833del NP_001337461.1:p.Asp943Ter
NM_001350533.1:c.2761_2767del NP_001337462.1:p.Asp921Ter
NM_001350534.1:c.2734_2740del NP_001337463.1:p.Asp912Ter
NM_001350535.1:c.2743-15_2743-9del NP_001337464.1:n.2743-15_2743-9del
NM_001350536.1:c.2632_2638del NP_001337465.1:p.Asp878Ter
NM_001350537.1:c.2629_2635del NP_001337466.1:p.Asp877Ter
NM_001350538.1:c.2620_2626del NP_001337467.1:p.Asp874Ter
NM_001350539.1:c.2605_2611del NP_001337468.1:p.Asp869Ter
NM_001350540.1:c.2599_2605del NP_001337469.1:p.Asp867Ter
NM_001350541.1:c.2572_2578del NP_001337470.1:p.Asp858Ter
NM_001350542.1:c.2476_2482del NP_001337471.1:p.Asp826Ter
NM_001350543.1:c.2473_2479del NP_001337472.1:p.Asp825Ter
NM_001350544.1:c.2464_2470del NP_001337473.1:p.Asp822Ter
NM_001350545.1:c.2320_2326del NP_001337474.1:p.Asp774Ter
NM_001350546.1:c.2320_2326del NP_001337475.1:p.Asp774Ter
NM_001350547.1:c.1714_1720del NP_001337476.1:p.Asp572Ter
NM_001350548.1:c.1609_1615del NP_001337477.1:p.Asp537Ter
NM_001350549.1:c.1609_1615del NP_001337478.1:p.Asp537Ter
NM_001350550.1:c.1609_1615del NP_001337479.1:p.Asp537Ter
NM_001350551.1:c.1609_1615del NP_001337480.1:p.Asp537Ter
NM_001350552.1:c.1609_1615del NP_001337481.1:p.Asp537Ter
NM_001350553.1:c.1582_1588del NP_001337482.1:p.Asp528Ter
NR_146774.1:n.3198_3204del
NR_146775.1:n.3201_3207del
NR_146776.1:n.3324_3330del
NR_146777.1:n.3452_3458del
NR_146778.1:n.3456_3462del
NR_146779.1:n.3453_3459del
XM_017011090.1:c.2605_2611del XP_016866579.1:p.Asp869Ter
XM_024446498.1:c.2473_2479del XP_024302266.1:p.Asp825Ter
XM_024446499.1:c.1609_1615del XP_024302267.1:p.Asp537Ter
NM_153816.6:c.2764_2770del MANE Select NP_722523.1:p.Asp922Ter
NM_001297614.3:c.2737_2743del NP_001284543.1:p.Asp913Ter
NM_001304479.2:c.2608_2614del NP_001291408.1:p.Asp870Ter
NM_001350532.2:c.2827_2833del NP_001337461.1:p.Asp943Ter
NM_001350533.2:c.2761_2767del NP_001337462.1:p.Asp921Ter
NM_001350534.2:c.2734_2740del NP_001337463.1:p.Asp912Ter
NM_001350535.2:c.2743-15_2743-9del NP_001337464.1:n.2743-15_2743-9del
NM_001350536.2:c.2632_2638del NP_001337465.1:p.Asp878Ter
NM_001350537.2:c.2629_2635del NP_001337466.1:p.Asp877Ter
NM_001350538.2:c.2620_2626del NP_001337467.1:p.Asp874Ter
NM_001350539.2:c.2605_2611del NP_001337468.1:p.Asp869Ter
NM_001350540.2:c.2599_2605del NP_001337469.1:p.Asp867Ter
NM_001350541.2:c.2572_2578del NP_001337470.1:p.Asp858Ter
NM_001350542.2:c.2476_2482del NP_001337471.1:p.Asp826Ter
NM_001350543.2:c.2473_2479del NP_001337472.1:p.Asp825Ter
NM_001350544.2:c.2464_2470del NP_001337473.1:p.Asp822Ter
NM_001350545.2:c.2320_2326del NP_001337474.1:p.Asp774Ter
NM_001350546.2:c.2320_2326del NP_001337475.1:p.Asp774Ter
NM_001350547.2:c.1714_1720del NP_001337476.1:p.Asp572Ter
NM_001350548.2:c.1609_1615del NP_001337477.1:p.Asp537Ter
NM_001350549.2:c.1609_1615del NP_001337478.1:p.Asp537Ter
NM_001350550.2:c.1609_1615del NP_001337479.1:p.Asp537Ter
NM_001350551.2:c.1609_1615del NP_001337480.1:p.Asp537Ter
NM_001350552.2:c.1609_1615del NP_001337481.1:p.Asp537Ter
NM_001350553.2:c.1582_1588del NP_001337482.1:p.Asp528Ter
NM_020468.6:c.2605_2611del NP_065201.1:p.Asp869Ter
NR_146774.2:n.2900_2906del
NR_146775.2:n.2903_2909del
NR_146776.2:n.3026_3032del
NR_146777.2:n.3154_3160del
NR_146778.2:n.3158_3164del
NR_146779.2:n.3155_3161del