MyVariant.info:
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001997 (NFE)
Exomes Max Group AF
0.00002119 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.26464658_26464681dup , CM000684.2:g.26464658_26464681dup | GRCh38 |
| NC_000022.10:g.26860624_26860647dup , CM000684.1:g.26860624_26860647dup | GRCh37 |
| NC_000022.9:g.25190624_25190647dup | NCBI36 |
| NG_009763.2:g.24183_24206dup , LRG_590:g.24183_24206dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422379.3:c.1003_1026dup | ENSP00000415081.3:p.Glu342_Asn343insAlaCysProAspGlyArgLysGlu | |
| ENST00000473782.2:c.949_972dup | ENSP00000514223.1:p.Glu324_Asn325insAlaCysProAspGlyArgLysGlu | |
| ENST00000483631.2:c.154_177dup | ENSP00000514228.1:p.Glu59_Asn60insAlaCysProAspGlyArgLysGlu | |
| ENST00000491142.2:c.949_972dup | ENSP00000514221.1:p.Glu324_Asn325insAlaCysProAspGlyArgLysGlu | |
| ENST00000699226.1:n.3875_3898dup | ||
| ENST00000699227.1:c.*293_*316dup | ENSP00000514220.1:n.*293_*316dup | |
| ENST00000699228.1:n.1499_1522dup | ||
| ENST00000699229.1:n.366_389dup | ||
| ENST00000699230.1:n.1672_1695dup | ||
| ENST00000699231.1:n.3961_3984dup | ||
| ENST00000699232.1:n.2305_2328dup | ||
| ENST00000699233.1:n.820_843dup | ||
| ENST00000699234.1:c.*293_*316dup | ENSP00000514222.1:n.*293_*316dup | |
| ENST00000699235.1:c.154_177dup | ENSP00000514224.1:p.Glu59_Asn60insAlaCysProAspGlyArgLysGlu | |
| ENST00000699236.1:c.*138_*161dup | ENSP00000514225.1:n.*138_*161dup | |
| ENST00000699237.1:c.*138_*161dup | ENSP00000514226.1:n.*138_*161dup | |
| ENST00000699238.1:c.*492_*515dup | ENSP00000514227.1:n.*492_*515dup | |
| ENST00000699239.1:n.3703_3726dup | ||
| ENST00000699240.1:c.*606_*629dup | ENSP00000514229.1:n.*606_*629dup | |
| ENST00000699241.1:c.*1141_*1164dup | ENSP00000514230.1:n.*1141_*1164dup | |
| ENST00000699242.1:c.859_882dup | ENSP00000514231.1:p.Glu294_Asn295insAlaCysProAspGlyArgLysGlu | |
| ENST00000699243.1:c.*293_*316dup | ENSP00000514232.1:n.*293_*316dup | |
| ENST00000699244.1:c.949_972dup | ENSP00000514233.1:p.Glu324_Asn325insAlaCysProAspGlyArgLysGlu | |
| ENST00000699246.1:c.*467_*490dup | ENSP00000514234.1:n.*467_*490dup | |
| ENST00000699247.1:c.669+3870_669+3893dup | ENSP00000514235.1:n.669+3870_669+3893dup | |
| ENST00000699248.1:n.3019_3042dup | ||
| ENST00000699249.1:c.*293_*316dup | ENSP00000514236.1:n.*293_*316dup | |
| ENST00000699250.1:c.949_972dup | ENSP00000514237.1:p.Glu324_Asn325insAlaCysProAspGlyArgLysGlu | |
| ENST00000699251.1:c.949_972dup | ENSP00000514238.1:p.Glu324_Asn325insAlaCysProAspGlyArgLysGlu | |
| ENST00000699252.1:n.1499_1522dup | ||
| ENST00000398145.7:c.949_972dup MANE Select | ENSP00000381213.2:p.Glu324_Asn325insAlaCysProAspGlyArgLysGlu | |
| ENST00000336873.9:c.949_972dup | ENSP00000338457.5:p.Glu324_Asn325insAlaCysProAspGlyArgLysGlu | |
| ENST00000398145.6:c.949_972dup | ENSP00000381213.2:p.Glu324_Asn325insAlaCysProAspGlyArgLysGlu | |
| ENST00000402105.7:c.934_957dup | ENSP00000384185.3:p.Glu319_Asn320insAlaCysProAspGlyArgLysGlu | |
| ENST00000422379.2:c.1003_1026dup | ENSP00000415081.2:p.Glu342_Asn343insAlaCysProAspGlyArgLysGlu | |
| ENST00000429411.5:c.*521_*544dup | ENSP00000399705.1:n.*521_*544dup | |
| ENST00000439453.5:c.*467_*490dup | ENSP00000406764.1:n.*467_*490dup | |
| ENST00000464362.5:c.*1280_*1303dup | ENSP00000430291.1:n.*1280_*1303dup | |
| ENST00000466781.5:n.3808_3831dup | ||
| ENST00000485842.5:n.404+3870_404+3893dup | ||
| ENST00000496385.5:n.1715_1738dup | ||
| NM_022081.5:c.949_972dup , LRG_590t1:c.949_972dup | NP_071364.4:p.Glu324_Asn325insAlaCysProAspGlyArgLysGlu | |
| NM_152841.2:c.934_957dup , LRG_590t2:c.934_957dup | NP_690054.1:p.Glu319_Asn320insAlaCysProAspGlyArgLysGlu | |
| NR_073135.1:n.1635_1658dup | ||
| NR_073136.1:n.1397_1420dup | ||
| XM_006724353.2:c.1003_1026dup | XP_006724416.1:p.Glu342_Asn343insAlaCysProAspGlyArgLysGlu | |
| XM_006724354.2:c.1003_1026dup | XP_006724417.1:p.Glu342_Asn343insAlaCysProAspGlyArgLysGlu | |
| XM_006724360.2:c.436_459dup | XP_006724423.1:p.Glu153_Asn154insAlaCysProAspGlyArgLysGlu | |
| XM_011530485.1:c.1081_1104dup | XP_011528787.1:p.Glu368_Asn369insAlaCysProAspGlyArgLysGlu | |
| XM_011530486.1:c.1081_1104dup | XP_011528788.1:p.Glu368_Asn369insAlaCysProAspGlyArgLysGlu | |
| XM_011530487.1:c.1081_1104dup | XP_011528789.1:p.Glu368_Asn369insAlaCysProAspGlyArgLysGlu | |
| XM_011530488.1:c.1081_1104dup | XP_011528790.1:p.Glu368_Asn369insAlaCysProAspGlyArgLysGlu | |
| XM_011530489.1:c.1081_1104dup | XP_011528791.1:p.Glu368_Asn369insAlaCysProAspGlyArgLysGlu | |
| XM_011530490.1:c.1027_1050dup | XP_011528792.1:p.Glu350_Asn351insAlaCysProAspGlyArgLysGlu | |
| XM_011530491.1:c.1081_1104dup | XP_011528793.1:p.Glu368_Asn369insAlaCysProAspGlyArgLysGlu | |
| XM_011530492.1:c.1081_1104dup | XP_011528794.1:p.Glu368_Asn369insAlaCysProAspGlyArgLysGlu | |
| XM_011530493.1:c.1081_1104dup | XP_011528795.1:p.Glu368_Asn369insAlaCysProAspGlyArgLysGlu | |
| XM_011530494.1:c.289_312dup | XP_011528796.1:p.Glu104_Asn105insAlaCysProAspGlyArgLysGlu | |
| XM_011530495.1:c.436_459dup | XP_011528797.1:p.Glu153_Asn154insAlaCysProAspGlyArgLysGlu | |
| XM_011530496.1:c.289_312dup | XP_011528798.1:p.Glu104_Asn105insAlaCysProAspGlyArgLysGlu | |
| XR_937947.1:n.1740_1763dup | ||
| NM_001349896.1:c.949_972dup | NP_001336825.1:p.Glu324_Asn325insAlaCysProAspGlyArgLysGlu | |
| NM_001349898.1:c.949_972dup | NP_001336827.1:p.Glu324_Asn325insAlaCysProAspGlyArgLysGlu | |
| NM_001349899.1:c.949_972dup | NP_001336828.1:p.Glu324_Asn325insAlaCysProAspGlyArgLysGlu | |
| NM_001349900.1:c.1003_1026dup | NP_001336829.1:p.Glu342_Asn343insAlaCysProAspGlyArgLysGlu | |
| NM_001349901.1:c.1003_1026dup | NP_001336830.1:p.Glu342_Asn343insAlaCysProAspGlyArgLysGlu | |
| NM_001349902.1:c.949_972dup | NP_001336831.1:p.Glu324_Asn325insAlaCysProAspGlyArgLysGlu | |
| NM_001349903.1:c.949_972dup | NP_001336832.1:p.Glu324_Asn325insAlaCysProAspGlyArgLysGlu | |
| NM_001349904.1:c.949_972dup | NP_001336833.1:p.Glu324_Asn325insAlaCysProAspGlyArgLysGlu | |
| NM_001349905.1:c.949_972dup | NP_001336834.1:p.Glu324_Asn325insAlaCysProAspGlyArgLysGlu | |
| NR_146311.1:n.1726_1749dup | ||
| NR_146312.1:n.1551_1574dup | ||
| NR_146313.1:n.1571_1594dup | ||
| NR_146314.1:n.1702_1725dup | ||
| NR_146315.1:n.1642_1665dup | ||
| NR_146316.1:n.1617_1640dup | ||
| XM_006724360.3:c.436_459dup | XP_006724423.1:p.Glu153_Asn154insAlaCysProAspGlyArgLysGlu | |
| XM_011530485.2:c.1081_1104dup | XP_011528787.1:p.Glu368_Asn369insAlaCysProAspGlyArgLysGlu | |
| XM_011530486.2:c.1081_1104dup | XP_011528788.1:p.Glu368_Asn369insAlaCysProAspGlyArgLysGlu | |
| XM_011530487.2:c.1081_1104dup | XP_011528789.1:p.Glu368_Asn369insAlaCysProAspGlyArgLysGlu | |
| XM_011530488.2:c.1081_1104dup | XP_011528790.1:p.Glu368_Asn369insAlaCysProAspGlyArgLysGlu | |
| XM_011530489.2:c.1081_1104dup | XP_011528791.1:p.Glu368_Asn369insAlaCysProAspGlyArgLysGlu | |
| XM_011530490.3:c.1027_1050dup | XP_011528792.1:p.Glu350_Asn351insAlaCysProAspGlyArgLysGlu | |
| XM_011530491.3:c.1081_1104dup | XP_011528793.1:p.Glu368_Asn369insAlaCysProAspGlyArgLysGlu | |
| XM_011530492.2:c.1081_1104dup | XP_011528794.1:p.Glu368_Asn369insAlaCysProAspGlyArgLysGlu | |
| XM_011530493.3:c.1081_1104dup | XP_011528795.1:p.Glu368_Asn369insAlaCysProAspGlyArgLysGlu | |
| XM_011530494.2:c.289_312dup | XP_011528796.1:p.Glu104_Asn105insAlaCysProAspGlyArgLysGlu | |
| XM_011530495.2:c.436_459dup | XP_011528797.1:p.Glu153_Asn154insAlaCysProAspGlyArgLysGlu | |
| XM_011530496.2:c.289_312dup | XP_011528798.1:p.Glu104_Asn105insAlaCysProAspGlyArgLysGlu | |
| XM_017029045.2:c.1027_1050dup | XP_016884534.1:p.Glu350_Asn351insAlaCysProAspGlyArgLysGlu | |
| XM_017029046.2:c.949_972dup | XP_016884535.1:p.Glu324_Asn325insAlaCysProAspGlyArgLysGlu | |
| XM_017029047.2:c.1027_1050dup | XP_016884536.1:p.Glu350_Asn351insAlaCysProAspGlyArgLysGlu | |
| XM_017029052.2:c.541_564dup | XP_016884541.1:p.Glu188_Asn189insAlaCysProAspGlyArgLysGlu | |
| XM_017029053.1:c.526_549dup | XP_016884542.1:p.Glu183_Asn184insAlaCysProAspGlyArgLysGlu | |
| XM_017029056.2:c.154_177dup | XP_016884545.1:p.Glu59_Asn60insAlaCysProAspGlyArgLysGlu | |
| XM_017029061.2:c.154_177dup | XP_016884550.1:p.Glu59_Asn60insAlaCysProAspGlyArgLysGlu | |
| XM_017029062.2:c.154_177dup | XP_016884551.1:p.Glu59_Asn60insAlaCysProAspGlyArgLysGlu | |
| XM_017029063.2:c.154_177dup | XP_016884552.1:p.Glu59_Asn60insAlaCysProAspGlyArgLysGlu | |
| XM_017029064.2:c.154_177dup | XP_016884553.1:p.Glu59_Asn60insAlaCysProAspGlyArgLysGlu | |
| XM_024452298.1:c.322_345dup | XP_024308066.1:p.Glu115_Asn116insAlaCysProAspGlyArgLysGlu | |
| XM_024452299.1:c.154_177dup | XP_024308067.1:p.Glu59_Asn60insAlaCysProAspGlyArgLysGlu | |
| XM_024452300.1:c.154_177dup | XP_024308068.1:p.Glu59_Asn60insAlaCysProAspGlyArgLysGlu | |
| XR_001755361.2:n.1657_1680dup | ||
| XR_001755364.1:n.1513_1536dup | ||
| XR_001755366.2:n.2186_2209dup | ||
| XR_002958721.1:n.1735_1758dup | ||
| XR_937947.2:n.1735_1758dup | ||
| NM_001349898.2:c.949_972dup | NP_001336827.1:p.Glu324_Asn325insAlaCysProAspGlyArgLysGlu | |
| NM_001349899.2:c.949_972dup | NP_001336828.1:p.Glu324_Asn325insAlaCysProAspGlyArgLysGlu | |
| NM_001349900.2:c.1003_1026dup | NP_001336829.1:p.Glu342_Asn343insAlaCysProAspGlyArgLysGlu | |
| NM_001349903.2:c.949_972dup | NP_001336832.1:p.Glu324_Asn325insAlaCysProAspGlyArgLysGlu | |
| NM_001349904.2:c.949_972dup | NP_001336833.1:p.Glu324_Asn325insAlaCysProAspGlyArgLysGlu | |
| NR_073136.2:n.1204_1227dup | ||
| NR_146311.2:n.1646_1669dup | ||
| NR_146313.2:n.1491_1514dup | ||
| NR_146315.2:n.1562_1585dup | ||
| NM_022081.6:c.949_972dup MANE Select | NP_071364.4:p.Glu324_Asn325insAlaCysProAspGlyArgLysGlu | |
| NR_146316.2:n.1537_1560dup |