ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v4:
MyVariant.info:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.26453275_26453279dup , CM000684.2:g.26453275_26453279dup | GRCh38 |
| NC_000022.10:g.26849241_26849245dup , CM000684.1:g.26849241_26849245dup | GRCh37 |
| NC_000022.9:g.25179241_25179245dup | NCBI36 |
| NG_009763.2:g.35593_35597dup , LRG_590:g.35593_35597dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422379.3:c.2143_2147dup | ENSP00000415081.3:p.Lys717SerfsTer5 | |
| ENST00000473782.2:c.2089_2093dup | ENSP00000514223.1:p.Lys699SerfsTer5 | |
| ENST00000483631.2:c.1294_1298dup | ENSP00000514228.1:p.Lys434SerfsTer5 | |
| ENST00000491142.2:c.2089_2093dup | ENSP00000514221.1:p.Lys699SerfsTer5 | |
| ENST00000699226.1:n.4881+4588_4881+4592dup | ||
| ENST00000699227.1:c.*1299+4588_*1299+4592dup | ENSP00000514220.1:n.*1299+4588_*1299+4592dup | |
| ENST00000699228.1:n.2505+4588_2505+4592dup | ||
| ENST00000699229.1:n.1506_1510dup | ||
| ENST00000699230.1:n.2812_2816dup | ||
| ENST00000699231.1:n.5101_5105dup | ||
| ENST00000699232.1:n.3445_3449dup | ||
| ENST00000699233.1:n.1960_1964dup | ||
| ENST00000699234.1:c.*1433_*1437dup | ENSP00000514222.1:n.*1433_*1437dup | |
| ENST00000699235.1:c.1294_1298dup | ENSP00000514224.1:p.Lys434SerfsTer5 | |
| ENST00000699236.1:c.*1278_*1282dup | ENSP00000514225.1:n.*1278_*1282dup | |
| ENST00000699237.1:c.*1278_*1282dup | ENSP00000514226.1:n.*1278_*1282dup | |
| ENST00000699238.1:c.*1632_*1636dup | ENSP00000514227.1:n.*1632_*1636dup | |
| ENST00000699239.1:n.4843_4847dup | ||
| ENST00000699240.1:c.*1746_*1750dup | ENSP00000514229.1:n.*1746_*1750dup | |
| ENST00000699241.1:c.*2281_*2285dup | ENSP00000514230.1:n.*2281_*2285dup | |
| ENST00000699242.1:c.1999_2003dup | ENSP00000514231.1:p.Lys669SerfsTer5 | |
| ENST00000699243.1:c.*1433_*1437dup | ENSP00000514232.1:n.*1433_*1437dup | |
| ENST00000699244.1:c.1942_1946dup | ENSP00000514233.1:p.Lys650SerfsTer5 | |
| ENST00000699245.1:n.1381_1385dup | ||
| ENST00000699246.1:c.*1460_*1464dup | ENSP00000514234.1:n.*1460_*1464dup | |
| ENST00000699247.1:c.1045_1049dup | ENSP00000514235.1:p.Lys351SerfsTer5 | |
| ENST00000699248.1:n.3917_3921dup | ||
| ENST00000699249.1:c.*1191_*1195dup | ENSP00000514236.1:n.*1191_*1195dup | |
| ENST00000699250.1:c.1847_1851dup | ENSP00000514237.1:p.Glu618LysfsTer13 | |
| ENST00000699251.1:c.*614_*618dup | ENSP00000514238.1:n.*614_*618dup | |
| ENST00000398145.7:c.2089_2093dup MANE Select | ENSP00000381213.2:p.Lys699SerfsTer5 | |
| ENST00000336873.9:c.2089_2093dup | ENSP00000338457.5:p.Lys699SerfsTer5 | |
| ENST00000398145.6:c.2089_2093dup | ENSP00000381213.2:p.Lys699SerfsTer5 | |
| ENST00000402105.7:c.2074_2078dup | ENSP00000384185.3:p.Lys694SerfsTer5 | |
| ENST00000429411.5:c.*1661_*1665dup | ENSP00000399705.1:n.*1661_*1665dup | |
| ENST00000439453.5:c.*1607_*1611dup | ENSP00000406764.1:n.*1607_*1611dup | |
| ENST00000464362.5:c.*2420_*2424dup | ENSP00000430291.1:n.*2420_*2424dup | |
| ENST00000466781.5:n.4948_4952dup | ||
| ENST00000493455.6:n.518+4588_518+4592dup | ||
| ENST00000496385.5:n.2613_2617dup | ||
| ENST00000519774.5:n.341+4588_341+4592dup | ||
| NM_022081.5:c.2089_2093dup , LRG_590t1:c.2089_2093dup | NP_071364.4:p.Lys699SerfsTer5 | |
| NM_152841.2:c.2074_2078dup , LRG_590t2:c.2074_2078dup | NP_690054.1:p.Lys694SerfsTer5 | |
| NR_073135.1:n.2775_2779dup | ||
| NR_073136.1:n.2537_2541dup | ||
| XM_006724353.2:c.2143_2147dup | XP_006724416.1:p.Lys717SerfsTer5 | |
| XM_006724354.2:c.2143_2147dup | XP_006724417.1:p.Lys717SerfsTer5 | |
| XM_006724360.2:c.1576_1580dup | XP_006724423.1:p.Lys528SerfsTer5 | |
| XM_011530485.1:c.2221_2225dup | XP_011528787.1:p.Lys743SerfsTer5 | |
| XM_011530486.1:c.2221_2225dup | XP_011528788.1:p.Lys743SerfsTer5 | |
| XM_011530487.1:c.2221_2225dup | XP_011528789.1:p.Lys743SerfsTer5 | |
| XM_011530488.1:c.2221_2225dup | XP_011528790.1:p.Lys743SerfsTer5 | |
| XM_011530489.1:c.2221_2225dup | XP_011528791.1:p.Lys743SerfsTer5 | |
| XM_011530490.1:c.2167_2171dup | XP_011528792.1:p.Lys725SerfsTer5 | |
| XM_011530492.1:c.2087+4588_2087+4592dup | XP_011528794.1:n.2087+4588_2087+4592dup | |
| XM_011530493.1:c.1979_1983dup | XP_011528795.1:p.Glu662LysfsTer13 | |
| XM_011530494.1:c.1429_1433dup | XP_011528796.1:p.Lys479SerfsTer5 | |
| XM_011530495.1:c.1576_1580dup | XP_011528797.1:p.Lys528SerfsTer5 | |
| XM_011530496.1:c.1429_1433dup | XP_011528798.1:p.Lys479SerfsTer5 | |
| XR_937947.1:n.2880_2884dup | ||
| NM_001349896.1:c.2089_2093dup | NP_001336825.1:p.Lys699SerfsTer5 | |
| NM_001349898.1:c.2089_2093dup | NP_001336827.1:p.Lys699SerfsTer5 | |
| NM_001349899.1:c.2089_2093dup | NP_001336828.1:p.Lys699SerfsTer5 | |
| NM_001349900.1:c.2143_2147dup | NP_001336829.1:p.Lys717SerfsTer5 | |
| NM_001349901.1:c.2143_2147dup | NP_001336830.1:p.Lys717SerfsTer5 | |
| NM_001349902.1:c.1847_1851dup | NP_001336831.1:p.Glu618LysfsTer13 | |
| NM_001349903.1:c.1847_1851dup | NP_001336832.1:p.Glu618LysfsTer13 | |
| NM_001349904.1:c.1955+4588_1955+4592dup | NP_001336833.1:n.1955+4588_1955+4592dup | |
| NM_001349905.1:c.1955+4588_1955+4592dup | NP_001336834.1:n.1955+4588_1955+4592dup | |
| NR_146311.1:n.2866_2870dup | ||
| NR_146312.1:n.2691_2695dup | ||
| NR_146313.1:n.2711_2715dup | ||
| NR_146314.1:n.2842_2846dup | ||
| NR_146315.1:n.2782_2786dup | ||
| NR_146316.1:n.2757_2761dup | ||
| XM_006724360.3:c.1576_1580dup | XP_006724423.1:p.Lys528SerfsTer5 | |
| XM_011530485.2:c.2221_2225dup | XP_011528787.1:p.Lys743SerfsTer5 | |
| XM_011530486.2:c.2221_2225dup | XP_011528788.1:p.Lys743SerfsTer5 | |
| XM_011530487.2:c.2221_2225dup | XP_011528789.1:p.Lys743SerfsTer5 | |
| XM_011530488.2:c.2221_2225dup | XP_011528790.1:p.Lys743SerfsTer5 | |
| XM_011530489.2:c.2221_2225dup | XP_011528791.1:p.Lys743SerfsTer5 | |
| XM_011530490.3:c.2167_2171dup | XP_011528792.1:p.Lys725SerfsTer5 | |
| XM_011530492.2:c.2087+4588_2087+4592dup | XP_011528794.1:n.2087+4588_2087+4592dup | |
| XM_011530493.3:c.1979_1983dup | XP_011528795.1:p.Glu662LysfsTer13 | |
| XM_011530494.2:c.1429_1433dup | XP_011528796.1:p.Lys479SerfsTer5 | |
| XM_011530495.2:c.1576_1580dup | XP_011528797.1:p.Lys528SerfsTer5 | |
| XM_011530496.2:c.1429_1433dup | XP_011528798.1:p.Lys479SerfsTer5 | |
| XM_017029045.2:c.2033+4588_2033+4592dup | XP_016884534.1:n.2033+4588_2033+4592dup | |
| XM_017029046.2:c.*614_*618dup | XP_016884535.1:n.*614_*618dup | |
| XM_017029047.2:c.1925_1929dup | XP_016884536.1:p.Glu644LysfsTer13 | |
| XM_017029052.2:c.1681_1685dup | XP_016884541.1:p.Lys563SerfsTer5 | |
| XM_017029053.1:c.1666_1670dup | XP_016884542.1:p.Lys558SerfsTer5 | |
| XM_017029056.2:c.1294_1298dup | XP_016884545.1:p.Lys434SerfsTer5 | |
| XM_017029061.2:c.1294_1298dup | XP_016884550.1:p.Lys434SerfsTer5 | |
| XM_017029062.2:c.1294_1298dup | XP_016884551.1:p.Lys434SerfsTer5 | |
| XM_017029063.2:c.1294_1298dup | XP_016884552.1:p.Lys434SerfsTer5 | |
| XM_017029064.2:c.1294_1298dup | XP_016884553.1:p.Lys434SerfsTer5 | |
| XM_024452298.1:c.1462_1466dup | XP_024308066.1:p.Lys490SerfsTer5 | |
| XM_024452299.1:c.1294_1298dup | XP_024308067.1:p.Lys434SerfsTer5 | |
| XM_024452300.1:c.1160+4588_1160+4592dup | XP_024308068.1:n.1160+4588_1160+4592dup | |
| XR_001755361.2:n.2797_2801dup | ||
| XR_001755364.1:n.2411_2415dup | ||
| XR_001755366.2:n.3326_3330dup | ||
| XR_002958721.1:n.2633_2637dup | ||
| XR_937947.2:n.2875_2879dup | ||
| NM_001349898.2:c.2089_2093dup | NP_001336827.1:p.Lys699SerfsTer5 | |
| NM_001349899.2:c.2089_2093dup | NP_001336828.1:p.Lys699SerfsTer5 | |
| NM_001349900.2:c.2143_2147dup | NP_001336829.1:p.Lys717SerfsTer5 | |
| NM_001349903.2:c.1847_1851dup | NP_001336832.1:p.Glu618LysfsTer13 | |
| NM_001349904.2:c.1955+4588_1955+4592dup | NP_001336833.1:n.1955+4588_1955+4592dup | |
| NR_073136.2:n.2344_2348dup | ||
| NR_146311.2:n.2786_2790dup | ||
| NR_146313.2:n.2631_2635dup | ||
| NR_146315.2:n.2702_2706dup | ||
| NM_022081.6:c.2089_2093dup MANE Select | NP_071364.4:p.Lys699SerfsTer5 | |
| NR_146316.2:n.2677_2681dup |