Linked Data
ClinVar Variation Id:
419155
dbSNP Id:
rs1064793681
gnomAD v2:
6-86216982-ACAATGTC-A
gnomAD v4:
6-85507264-ACAATGTC-A
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 |