Linked Data
ClinVar Variation Id:
375550
ClinVar RCV Id:
RCV000416984
dbSNP Id:
rs1057519561
gnomAD v3:
6-85533701-G-GAAAAAAAAAAA
gnomAD v4:
6-85533701-G-GAAAAAAAAAAA
MyVariant Identifiers:
chr6:g.86243419_86243420insAAAAAAAAAAA (hg19)
chr6:g.85533701_85533702insAAAAAAAAAAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.85533703_85533704insAAAAAAAAAAA , CM000668.2:g.85533703_85533704insAAAAAAAAAAA | GRCh38 |
| NC_000006.11:g.86243421_86243422insAAAAAAAAAAA , CM000668.1:g.86243421_86243422insAAAAAAAAAAA | GRCh37 |
| NC_000006.10:g.86300140_86300141insAAAAAAAAAAA | NCBI36 |
| NG_047171.1:g.65455_65456insTTTTTTTTTTT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369635.7:c.*589_*590insTTTTTTTTTTT | ENSP00000358649.3:n.*589_*590insTTTTTTTTT... | |
| ENST00000508658.6:c.1707_1708insTTTTTTTTTTT | ENSP00000422814.2:p.Pro570PhefsTer7 | |
| ENST00000509338.6:c.1389+9480_1389+9481insTTTTTTTTTTT | ENSP00000424302.2:n.1389+9480_1389+9481in... | |
| ENST00000514801.2:n.924_925insTTTTTTTTTTT | ||
| ENST00000515216.6:c.1707_1708insTTTTTTTTTTT | ENSP00000425630.2:p.Pro570PhefsTer7 | |
| ENST00000681965.1:c.2845_2846insTTTTTTTTTTT | ENSP00000507317.1:n.2845_2846insTTTTTTTTT... | |
| ENST00000681981.1:c.1707_1708insTTTTTTTTTTT | ENSP00000507672.1:p.Pro570PhefsTer7 | |
| ENST00000682022.1:c.*1599_*1600insTTTTTTTTTTT | ENSP00000508118.1:n.*1599_*1600insTTTTTTT... | |
| ENST00000682023.1:c.*1330_*1331insTTTTTTTTTTT | ENSP00000507998.1:n.*1330_*1331insTTTTTTT... | |
| ENST00000682034.1:c.*874_*875insTTTTTTTTTTT | ENSP00000506724.1:n.*874_*875insTTTTTTTTT... | |
| ENST00000682057.1:c.*1136_*1137insTTTTTTTTTTT | ENSP00000507883.1:n.*1136_*1137insTTTTTTT... | |
| ENST00000682083.1:c.*1617_*1618insTTTTTTTTTTT | ENSP00000506859.1:n.*1617_*1618insTTTTTTT... | |
| ENST00000682106.1:n.4233_4234insTTTTTTTTTTT | ||
| ENST00000682133.1:c.1704_1705insTTTTTTTTTTT | ENSP00000507001.1:p.Pro569PhefsTer7 | |
| ENST00000682171.1:c.1548_1549insTTTTTTTTTTT | ENSP00000508327.1:p.Pro517PhefsTer7 | |
| ENST00000682174.1:c.*1330_*1331insTTTTTTTTTTT | ENSP00000507248.1:n.*1330_*1331insTTTTTTT... | |
| ENST00000682374.1:c.*253_*254insTTTTTTTTTTT | ENSP00000507425.1:n.*253_*254insTTTTTTTTT... | |
| ENST00000682412.1:c.1547_1548insTTTTTTTTTTT | ENSP00000507297.1:n.1547_1548insTTTTTTTTT... | |
| ENST00000682454.1:c.*1070_*1071insTTTTTTTTTTT | ENSP00000507851.1:n.*1070_*1071insTTTTTTT... | |
| ENST00000682455.1:c.*2685_*2686insTTTTTTTTTTT | ENSP00000507586.1:n.*2685_*2686insTTTTTTT... | |
| ENST00000682464.1:c.1707_1708insTTTTTTTTTTT | ENSP00000507625.1:p.Pro570PhefsTer7 | |
| ENST00000682491.1:c.1419_1420insTTTTTTTTTTT | ENSP00000506970.1:p.Pro474PhefsTer7 | |
| ENST00000682497.1:c.1704_1705insTTTTTTTTTTT | ENSP00000507869.1:p.Pro569PhefsTer7 | |
| ENST00000682504.1:c.*1613_*1614insTTTTTTTTTTT | ENSP00000507623.1:n.*1613_*1614insTTTTTTT... | |
| ENST00000682514.1:n.1754_1755insTTTTTTTTTTT | ||
| ENST00000682594.1:n.2069_2070insTTTTTTTTTTT | ||
| ENST00000682633.1:c.1548_1549insTTTTTTTTTTT | ENSP00000507843.1:p.Pro517PhefsTer7 | |
| ENST00000682660.1:c.1707_1708insTTTTTTTTTTT | ENSP00000507539.1:p.Pro570PhefsTer7 | |
| ENST00000682682.1:c.1707_1708insTTTTTTTTTTT | ENSP00000507777.1:p.Pro570PhefsTer7 | |
| ENST00000682688.1:c.*458_*459insTTTTTTTTTTT | ENSP00000507097.1:n.*458_*459insTTTTTTTTT... | |
| ENST00000682694.1:c.*1070_*1071insTTTTTTTTTTT | ENSP00000507387.1:n.*1070_*1071insTTTTTTT... | |
| ENST00000682709.1:n.1886_1887insTTTTTTTTTTT | ||
| ENST00000682738.1:c.1680_1681insTTTTTTTTTTT | ENSP00000507742.1:p.Pro561PhefsTer7 | |
| ENST00000682776.1:c.*458_*459insTTTTTTTTTTT | ENSP00000507490.1:n.*458_*459insTTTTTTTTT... | |
| ENST00000682854.1:c.*1695_*1696insTTTTTTTTTTT | ENSP00000507257.1:n.*1695_*1696insTTTTTTT... | |
| ENST00000682878.1:c.*1395_*1396insTTTTTTTTTTT | ENSP00000507360.1:n.*1395_*1396insTTTTTTT... | |
| ENST00000682926.1:n.1114_1115insTTTTTTTTTTT | ||
| ENST00000682939.1:c.1419_1420insTTTTTTTTTTT | ENSP00000506902.1:p.Pro474PhefsTer7 | |
| ENST00000682991.1:c.1488_1489insTTTTTTTTTTT | ENSP00000508193.1:p.Pro497PhefsTer7 | |
| ENST00000682995.1:c.*431_*432insTTTTTTTTTTT | ENSP00000506807.1:n.*431_*432insTTTTTTTTT... | |
| ENST00000683073.1:c.1608+3090_1608+3091insTTTTTTTTTTT | ENSP00000507270.1:n.1608+3090_1608+3091in... | |
| ENST00000683074.1:c.*1617_*1618insTTTTTTTTTTT | ENSP00000507008.1:n.*1617_*1618insTTTTTTT... | |
| ENST00000683085.1:c.1707_1708insTTTTTTTTTTT | ENSP00000507993.1:p.Pro570PhefsTer7 | |
| ENST00000683097.1:c.*77_*78insTTTTTTTTTTT | ENSP00000507556.1:n.*77_*78insTTTTTTTTTTT... | |
| ENST00000683126.1:c.*1227_*1228insTTTTTTTTTTT | ENSP00000507507.1:n.*1227_*1228insTTTTTTT... | |
| ENST00000683195.1:c.*1070_*1071insTTTTTTTTTTT | ENSP00000508190.1:n.*1070_*1071insTTTTTTT... | |
| ENST00000683196.1:c.*1070_*1071insTTTTTTTTTTT | ENSP00000508297.1:n.*1070_*1071insTTTTTTT... | |
| ENST00000683364.1:c.*1589_*1590insTTTTTTTTTTT | ENSP00000507791.1:n.*1589_*1590insTTTTTTT... | |
| ENST00000683436.1:c.*1299+9480_*1299+9481insTTTTTTTTTTT | ENSP00000506874.1:n.*1299+9480_*1299+9481... | |
| ENST00000683458.1:c.*458_*459insTTTTTTTTTTT | ENSP00000508204.1:n.*458_*459insTTTTTTTTT... | |
| ENST00000683473.1:n.1886_1887insTTTTTTTTTTT | ||
| ENST00000683479.1:c.1707_1708insTTTTTTTTTTT | ENSP00000507368.1:p.Pro570PhefsTer7 | |
| ENST00000683481.1:c.*589_*590insTTTTTTTTTTT | ENSP00000507015.1:n.*589_*590insTTTTTTTTT... | |
| ENST00000683541.1:c.1704_1705insTTTTTTTTTTT | ENSP00000507116.1:p.Pro569PhefsTer7 | |
| ENST00000683542.1:c.*1231_*1232insTTTTTTTTTTT | ENSP00000506893.1:n.*1231_*1232insTTTTTTT... | |
| ENST00000683577.1:c.1575_1576insTTTTTTTTTTT | ENSP00000507516.1:p.Pro526PhefsTer7 | |
| ENST00000683583.1:c.*4121_*4122insTTTTTTTTTTT | ENSP00000507244.1:n.*4121_*4122insTTTTTTT... | |
| ENST00000683643.1:c.1575_1576insTTTTTTTTTTT | ENSP00000507444.1:p.Pro526PhefsTer7 | |
| ENST00000683698.1:c.*1223_*1224insTTTTTTTTTTT | ENSP00000507000.1:n.*1223_*1224insTTTTTTT... | |
| ENST00000683726.1:c.*1227_*1228insTTTTTTTTTTT | ENSP00000507744.1:n.*1227_*1228insTTTTTTT... | |
| ENST00000683754.1:c.1626_1627insTTTTTTTTTTT | ENSP00000507707.1:p.Pro543PhefsTer7 | |
| ENST00000683759.1:n.1886_1887insTTTTTTTTTTT | ||
| ENST00000683785.1:c.1572_1573insTTTTTTTTTTT | ENSP00000507188.1:p.Pro525PhefsTer7 | |
| ENST00000683803.1:c.*458_*459insTTTTTTTTTTT | ENSP00000508216.1:n.*458_*459insTTTTTTTTT... | |
| ENST00000683857.1:c.*1136_*1137insTTTTTTTTTTT | ENSP00000508015.1:n.*1136_*1137insTTTTTTT... | |
| ENST00000683873.1:c.*1282_*1283insTTTTTTTTTTT | ENSP00000506829.1:n.*1282_*1283insTTTTTTT... | |
| ENST00000683878.1:c.*988_*989insTTTTTTTTTTT | ENSP00000507449.1:n.*988_*989insTTTTTTTTT... | |
| ENST00000683880.1:c.*1231_*1232insTTTTTTTTTTT | ENSP00000508357.1:n.*1231_*1232insTTTTTTT... | |
| ENST00000683898.1:c.1542_1543insTTTTTTTTTTT | ENSP00000506897.1:p.Pro515PhefsTer7 | |
| ENST00000683909.1:n.3749_3750insTTTTTTTTTTT | ||
| ENST00000684017.1:n.1479_1480insTTTTTTTTTTT | ||
| ENST00000684108.1:n.1886_1887insTTTTTTTTTTT | ||
| ENST00000684118.1:c.1704_1705insTTTTTTTTTTT | ENSP00000507950.1:p.Pro569PhefsTer7 | |
| ENST00000684150.1:c.1548_1549insTTTTTTTTTTT | ENSP00000507401.1:p.Pro517PhefsTer7 | |
| ENST00000684220.1:c.*1589_*1590insTTTTTTTTTTT | ENSP00000507382.1:n.*1589_*1590insTTTTTTT... | |
| ENST00000684239.1:c.*1332_*1333insTTTTTTTTTTT | ENSP00000507479.1:n.*1332_*1333insTTTTTTT... | |
| ENST00000684273.1:c.*1200_*1201insTTTTTTTTTTT | ENSP00000508063.1:n.*1200_*1201insTTTTTTT... | |
| ENST00000684281.1:c.1356_1357insTTTTTTTTTTT | ENSP00000507932.1:p.Pro453PhefsTer7 | |
| ENST00000684299.1:c.1551_1552insTTTTTTTTTTT | ENSP00000507637.1:p.Pro518PhefsTer7 | |
| ENST00000684319.1:c.1707_1708insTTTTTTTTTTT | ENSP00000508346.1:p.Pro570PhefsTer7 | |
| ENST00000684422.1:c.*1380_*1381insTTTTTTTTTTT | ENSP00000507146.1:n.*1380_*1381insTTTTTTT... | |
| ENST00000684451.1:c.*1012_*1013insTTTTTTTTTTT | ENSP00000507384.1:n.*1012_*1013insTTTTTTT... | |
| ENST00000684570.1:c.1770_1771insTTTTTTTTTTT | ENSP00000508127.1:p.Pro591PhefsTer7 | |
| ENST00000684581.1:c.1704_1705insTTTTTTTTTTT | ENSP00000507294.1:p.Pro569PhefsTer7 | |
| ENST00000684647.1:c.1416_1417insTTTTTTTTTTT | ENSP00000506873.1:p.Pro473PhefsTer7 | |
| ENST00000684680.1:c.1332_1333insTTTTTTTTTTT | ENSP00000507491.1:p.Pro445PhefsTer7 | |
| ENST00000684717.1:c.1707_1708insTTTTTTTTTTT | ENSP00000507024.1:p.Pro570PhefsTer7 | |
| ENST00000314673.8:c.1707_1708insTTTTTTTTTTT MANE Select | ENSP00000313121.3:p.Pro570PhefsTer7 | |
| ENST00000314673.7:c.1707_1708insTTTTTTTTTTT | ENSP00000313121.3:p.Pro570PhefsTer7 | |
| ENST00000346348.7:c.1548_1549insTTTTTTTTTTT | ENSP00000257769.3:p.Pro517PhefsTer7 | |
| ENST00000369627.6:c.1680_1681insTTTTTTTTTTT | ENSP00000358641.2:p.Pro561PhefsTer7 | |
| ENST00000369635.6:c.*1070_*1071insTTTTTTTTTTT | ENSP00000358649.2:n.*1070_*1071insTTTTTTT... | |
| ENST00000503491.5:n.2196_2197insTTTTTTTTTTT | ||
| ENST00000505648.5:c.1551_1552insTTTTTTTTTTT | ENSP00000427380.1:p.Pro518PhefsTer7 | |
| ENST00000506182.1:n.599_600insTTTTTTTTTTT | ||
| ENST00000508980.5:n.2313_2314insTTTTTTTTTTT | ||
| ENST00000513865.5:c.1264+9903_1264+9904insTTTTTTTTTTT | ENSP00000420938.1:n.1264+9903_1264+9904in... | |
| ENST00000514801.1:n.332_333insTTTTTTTTTTT | ||
| ENST00000515216.5:c.1461_1462insTTTTTTTTTTT | ENSP00000425630.1:p.Pro488PhefsTer7 | |
| NM_001297614.2:c.1680_1681insTTTTTTTTTTT | NP_001284543.1:p.Pro561PhefsTer7 | |
| NM_001304479.1:c.1551_1552insTTTTTTTTTTT | NP_001291408.1:p.Pro518PhefsTer7 | |
| NM_020468.5:c.1548_1549insTTTTTTTTTTT | NP_065201.1:p.Pro517PhefsTer7 | |
| NM_153816.5:c.1707_1708insTTTTTTTTTTT | NP_722523.1:p.Pro570PhefsTer7 | |
| XM_005248738.3:c.1704_1705insTTTTTTTTTTT | XP_005248795.1:p.Pro569PhefsTer7 | |
| XM_005248740.3:c.1575_1576insTTTTTTTTTTT | XP_005248797.1:p.Pro526PhefsTer7 | |
| XM_011535977.1:c.1551_1552insTTTTTTTTTTT | XP_011534279.1:p.Pro518PhefsTer7 | |
| XM_011535978.1:c.1488_1489insTTTTTTTTTTT | XP_011534280.1:p.Pro497PhefsTer7 | |
| XM_011535979.1:c.1419_1420insTTTTTTTTTTT | XP_011534281.1:p.Pro474PhefsTer7 | |
| XM_011535980.1:c.552_553insTTTTTTTTTTT | XP_011534282.1:p.Pro185PhefsTer7 | |
| XR_942523.1:n.1561_1562insTTTTTTTTTTT | ||
| NM_001350532.1:c.1770_1771insTTTTTTTTTTT | NP_001337461.1:p.Pro591PhefsTer7 | |
| NM_001350533.1:c.1704_1705insTTTTTTTTTTT | NP_001337462.1:p.Pro569PhefsTer7 | |
| NM_001350534.1:c.1677_1678insTTTTTTTTTTT | NP_001337463.1:p.Pro560PhefsTer7 | |
| NM_001350535.1:c.1704_1705insTTTTTTTTTTT | NP_001337464.1:p.Pro569PhefsTer7 | |
| NM_001350536.1:c.1575_1576insTTTTTTTTTTT | NP_001337465.1:p.Pro526PhefsTer7 | |
| NM_001350537.1:c.1572_1573insTTTTTTTTTTT | NP_001337466.1:p.Pro525PhefsTer7 | |
| NM_001350538.1:c.1563_1564insTTTTTTTTTTT | NP_001337467.1:p.Pro522PhefsTer7 | |
| NM_001350539.1:c.1548_1549insTTTTTTTTTTT | NP_001337468.1:p.Pro517PhefsTer7 | |
| NM_001350540.1:c.1707_1708insTTTTTTTTTTT | NP_001337469.1:p.Pro570PhefsTer7 | |
| NM_001350541.1:c.1680_1681insTTTTTTTTTTT | NP_001337470.1:p.Pro561PhefsTer7 | |
| NM_001350542.1:c.1419_1420insTTTTTTTTTTT | NP_001337471.1:p.Pro474PhefsTer7 | |
| NM_001350543.1:c.1416_1417insTTTTTTTTTTT | NP_001337472.1:p.Pro473PhefsTer7 | |
| NM_001350544.1:c.1407_1408insTTTTTTTTTTT | NP_001337473.1:p.Pro470PhefsTer7 | |
| NM_001350545.1:c.1263_1264insTTTTTTTTTTT | NP_001337474.1:p.Pro422PhefsTer7 | |
| NM_001350546.1:c.1263_1264insTTTTTTTTTTT | NP_001337475.1:p.Pro422PhefsTer7 | |
| NM_001350547.1:c.657_658insTTTTTTTTTTT | NP_001337476.1:p.Pro220PhefsTer7 | |
| NM_001350548.1:c.552_553insTTTTTTTTTTT | NP_001337477.1:p.Pro185PhefsTer7 | |
| NM_001350549.1:c.552_553insTTTTTTTTTTT | NP_001337478.1:p.Pro185PhefsTer7 | |
| NM_001350550.1:c.552_553insTTTTTTTTTTT | NP_001337479.1:p.Pro185PhefsTer7 | |
| NM_001350551.1:c.552_553insTTTTTTTTTTT | NP_001337480.1:p.Pro185PhefsTer7 | |
| NM_001350552.1:c.552_553insTTTTTTTTTTT | NP_001337481.1:p.Pro185PhefsTer7 | |
| NM_001350553.1:c.525_526insTTTTTTTTTTT | NP_001337482.1:p.Pro176PhefsTer7 | |
| NR_146774.1:n.1887_1888insTTTTTTTTTTT | ||
| NR_146775.1:n.1890_1891insTTTTTTTTTTT | ||
| NR_146776.1:n.2013_2014insTTTTTTTTTTT | ||
| NR_146777.1:n.2141_2142insTTTTTTTTTTT | ||
| NR_146778.1:n.2145_2146insTTTTTTTTTTT | ||
| NR_146779.1:n.2142_2143insTTTTTTTTTTT | ||
| XM_011535977.2:c.1551_1552insTTTTTTTTTTT | XP_011534279.1:p.Pro518PhefsTer7 | |
| XM_017011090.1:c.1548_1549insTTTTTTTTTTT | XP_016866579.1:p.Pro517PhefsTer7 | |
| XM_024446498.1:c.1416_1417insTTTTTTTTTTT | XP_024302266.1:p.Pro473PhefsTer7 | |
| XM_024446499.1:c.552_553insTTTTTTTTTTT | XP_024302267.1:p.Pro185PhefsTer7 | |
| NM_153816.6:c.1707_1708insTTTTTTTTTTT MANE Select | NP_722523.1:p.Pro570PhefsTer7 | |
| NM_001297614.3:c.1680_1681insTTTTTTTTTTT | NP_001284543.1:p.Pro561PhefsTer7 | |
| NM_001304479.2:c.1551_1552insTTTTTTTTTTT | NP_001291408.1:p.Pro518PhefsTer7 | |
| NM_001350532.2:c.1770_1771insTTTTTTTTTTT | NP_001337461.1:p.Pro591PhefsTer7 | |
| NM_001350533.2:c.1704_1705insTTTTTTTTTTT | NP_001337462.1:p.Pro569PhefsTer7 | |
| NM_001350534.2:c.1677_1678insTTTTTTTTTTT | NP_001337463.1:p.Pro560PhefsTer7 | |
| NM_001350535.2:c.1704_1705insTTTTTTTTTTT | NP_001337464.1:p.Pro569PhefsTer7 | |
| NM_001350536.2:c.1575_1576insTTTTTTTTTTT | NP_001337465.1:p.Pro526PhefsTer7 | |
| NM_001350537.2:c.1572_1573insTTTTTTTTTTT | NP_001337466.1:p.Pro525PhefsTer7 | |
| NM_001350538.2:c.1563_1564insTTTTTTTTTTT | NP_001337467.1:p.Pro522PhefsTer7 | |
| NM_001350539.2:c.1548_1549insTTTTTTTTTTT | NP_001337468.1:p.Pro517PhefsTer7 | |
| NM_001350540.2:c.1707_1708insTTTTTTTTTTT | NP_001337469.1:p.Pro570PhefsTer7 | |
| NM_001350541.2:c.1680_1681insTTTTTTTTTTT | NP_001337470.1:p.Pro561PhefsTer7 | |
| NM_001350542.2:c.1419_1420insTTTTTTTTTTT | NP_001337471.1:p.Pro474PhefsTer7 | |
| NM_001350543.2:c.1416_1417insTTTTTTTTTTT | NP_001337472.1:p.Pro473PhefsTer7 | |
| NM_001350544.2:c.1407_1408insTTTTTTTTTTT | NP_001337473.1:p.Pro470PhefsTer7 | |
| NM_001350545.2:c.1263_1264insTTTTTTTTTTT | NP_001337474.1:p.Pro422PhefsTer7 | |
| NM_001350546.2:c.1263_1264insTTTTTTTTTTT | NP_001337475.1:p.Pro422PhefsTer7 | |
| NM_001350547.2:c.657_658insTTTTTTTTTTT | NP_001337476.1:p.Pro220PhefsTer7 | |
| NM_001350548.2:c.552_553insTTTTTTTTTTT | NP_001337477.1:p.Pro185PhefsTer7 | |
| NM_001350549.2:c.552_553insTTTTTTTTTTT | NP_001337478.1:p.Pro185PhefsTer7 | |
| NM_001350550.2:c.552_553insTTTTTTTTTTT | NP_001337479.1:p.Pro185PhefsTer7 | |
| NM_001350551.2:c.552_553insTTTTTTTTTTT | NP_001337480.1:p.Pro185PhefsTer7 | |
| NM_001350552.2:c.552_553insTTTTTTTTTTT | NP_001337481.1:p.Pro185PhefsTer7 | |
| NM_001350553.2:c.525_526insTTTTTTTTTTT | NP_001337482.1:p.Pro176PhefsTer7 | |
| NM_020468.6:c.1548_1549insTTTTTTTTTTT | NP_065201.1:p.Pro517PhefsTer7 | |
| NR_146774.2:n.1589_1590insTTTTTTTTTTT | ||
| NR_146775.2:n.1592_1593insTTTTTTTTTTT | ||
| NR_146776.2:n.1715_1716insTTTTTTTTTTT | ||
| NR_146777.2:n.1843_1844insTTTTTTTTTTT | ||
| NR_146778.2:n.1847_1848insTTTTTTTTTTT | ||
| NR_146779.2:n.1844_1845insTTTTTTTTTTT |