gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000808 (EAS)
Exomes Max Group AF
0.00000924 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.98427245dup , CM000672.2:g.98427245dup | GRCh38 |
| NC_000010.10:g.100187002dup , CM000672.1:g.100187002dup | GRCh37 |
| NC_000010.9:g.100176992dup | NCBI36 |
| NG_009646.1:g.24708dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699112.1:c.602dup | ENSP00000514137.1:p.Thr202HisfsTer? | |
| ENST00000699113.1:c.*340dup | ENSP00000514138.1:n.*340dup | |
| ENST00000699114.1:n.849dup | ||
| ENST00000699115.1:c.863dup | ENSP00000514139.1:p.Thr289HisfsTer? | |
| ENST00000699116.1:n.1692dup | ||
| ENST00000699117.1:n.1614dup | ||
| ENST00000699118.1:c.575dup | ENSP00000514140.1:p.Thr193HisfsTer? | |
| ENST00000699119.1:c.*321dup | ENSP00000514141.1:n.*321dup | |
| ENST00000699120.1:c.*420dup | ENSP00000514142.1:n.*420dup | |
| ENST00000699121.1:c.*321dup | ENSP00000514143.1:n.*321dup | |
| ENST00000699122.1:c.389dup | ENSP00000514144.1:p.Thr131HisfsTer? | |
| ENST00000699123.1:c.*730dup | ENSP00000514145.1:n.*730dup | |
| ENST00000699124.1:n.1052dup | ||
| ENST00000699125.1:c.992dup | ENSP00000514146.1:p.Thr332HisfsTer? | |
| ENST00000699126.1:n.1205dup | ||
| ENST00000699127.1:n.1205dup | ||
| ENST00000699128.1:c.*101dup | ENSP00000514147.1:n.*101dup | |
| ENST00000699129.1:c.*101dup | ENSP00000514148.1:n.*101dup | |
| ENST00000699130.1:n.1106dup | ||
| ENST00000699131.1:c.962dup | ENSP00000514149.1:p.Thr322HisfsTer? | |
| ENST00000699132.1:n.3257dup | ||
| ENST00000699133.1:c.863dup | ENSP00000514150.1:p.Thr289HisfsTer? | |
| ENST00000699134.1:c.1220dup | ENSP00000514151.1:p.Thr408HisfsTer? | |
| ENST00000699135.1:c.*340dup | ENSP00000514152.1:n.*340dup | |
| ENST00000699136.1:c.863dup | ENSP00000514153.1:p.Thr289HisfsTer? | |
| ENST00000699137.1:c.575dup | ENSP00000514154.1:p.Thr193HisfsTer? | |
| ENST00000699138.1:c.*420dup | ENSP00000514155.1:n.*420dup | |
| ENST00000699139.1:c.701dup | ENSP00000514156.1:p.Thr235HisfsTer? | |
| ENST00000699140.1:c.863dup | ENSP00000514157.1:p.Thr289HisfsTer? | |
| ENST00000699141.1:c.*420dup | ENSP00000514158.1:n.*420dup | |
| ENST00000699142.1:c.962dup | ENSP00000514159.1:p.Thr322HisfsTer? | |
| ENST00000699143.1:c.*321dup | ENSP00000514160.1:n.*321dup | |
| ENST00000699144.1:c.*420dup | ENSP00000514161.1:n.*420dup | |
| ENST00000699145.1:c.962dup | ENSP00000514162.1:p.Thr322HisfsTer? | |
| ENST00000699146.1:c.962dup | ENSP00000514164.1:p.Thr322HisfsTer? | |
| ENST00000699147.1:c.*420dup | ENSP00000514165.1:n.*420dup | |
| ENST00000699149.1:n.1205dup | ||
| ENST00000699159.1:c.*321dup | ENSP00000514167.1:n.*321dup | |
| ENST00000361490.9:c.962dup MANE Select | ENSP00000355310.4:p.Thr322HisfsTer? | |
| ENST00000325103.10:c.962dup | ENSP00000326649.6:p.Thr322HisfsTer? | |
| ENST00000359632.7:c.347dup | ENSP00000352652.3:p.Thr117HisfsTer? | |
| ENST00000361490.8:c.962dup | ENSP00000355310.4:p.Thr322HisfsTer? | |
| ENST00000467246.5:n.1101dup | ||
| ENST00000470095.5:n.347dup | ||
| ENST00000478087.5:n.508dup | ||
| ENST00000498219.5:n.740dup | ||
| ENST00000613394.4:c.962dup | ENSP00000477926.1:p.Thr322HisfsTer? | |
| NM_000195.3:c.962dup | NP_000186.2:p.Thr322HisfsTer? | |
| NM_000195.4:c.962dup | NP_000186.2:p.Thr322HisfsTer? | |
| NM_001311345.1:c.-11dup | NP_001298274.1:n.-11dup | |
| XM_005269755.2:c.962dup | XP_005269812.1:p.Thr322HisfsTer? | |
| XM_005269756.2:c.962dup | XP_005269813.1:p.Thr322HisfsTer? | |
| XM_005269757.3:c.962dup | XP_005269814.1:p.Thr322HisfsTer? | |
| XM_005269758.1:c.863dup | XP_005269815.1:p.Thr289HisfsTer? | |
| XM_005269759.1:c.593dup | XP_005269816.1:p.Thr199HisfsTer? | |
| XM_005269760.3:c.-11dup | XP_005269817.1:n.-11dup | |
| XM_005269761.1:c.-11dup | XP_005269818.1:n.-11dup | |
| XM_006717818.1:c.701dup | XP_006717881.1:p.Thr235HisfsTer? | |
| NM_001322476.1:c.962dup | NP_001309405.1:p.Thr322HisfsTer? | |
| NM_001322477.1:c.962dup | NP_001309406.1:p.Thr322HisfsTer? | |
| NM_001322478.1:c.863dup | NP_001309407.1:p.Thr289HisfsTer? | |
| NM_001322479.1:c.863dup | NP_001309408.1:p.Thr289HisfsTer? | |
| NM_001322480.1:c.701dup | NP_001309409.1:p.Thr235HisfsTer? | |
| NM_001322481.1:c.701dup | NP_001309410.1:p.Thr235HisfsTer? | |
| NM_001322482.1:c.602dup | NP_001309411.1:p.Thr202HisfsTer? | |
| NM_001322483.1:c.593dup | NP_001309412.1:p.Thr199HisfsTer? | |
| NM_001322484.1:c.593dup | NP_001309413.1:p.Thr199HisfsTer? | |
| NM_001322485.1:c.494dup | NP_001309414.1:p.Thr166HisfsTer? | |
| NM_001322487.1:c.-11dup | NP_001309416.1:n.-11dup | |
| NM_001322489.1:c.-11dup | NP_001309418.1:n.-11dup | |
| XM_005269757.4:c.962dup | XP_005269814.1:p.Thr322HisfsTer? | |
| XM_017016170.1:c.602dup | XP_016871659.1:p.Thr202HisfsTer? | |
| XM_017016171.2:c.494dup | XP_016871660.1:p.Thr166HisfsTer? | |
| XM_017016172.2:c.-11dup | XP_016871661.1:n.-11dup | |
| XM_024447971.1:c.992dup | XP_024303739.1:p.Thr332HisfsTer? | |
| XM_024447972.1:c.-11dup | XP_024303740.1:n.-11dup | |
| XR_001747098.1:n.1231dup | ||
| XR_001747099.2:n.1231dup | ||
| XR_001747100.2:n.1231dup | ||
| XR_001747101.2:n.1132dup | ||
| NM_000195.5:c.962dup MANE Select | NP_000186.2:p.Thr322HisfsTer? | |
| NM_001311345.2:c.-11dup | NP_001298274.1:n.-11dup | |
| NM_001322476.2:c.962dup | NP_001309405.1:p.Thr322HisfsTer? | |
| NM_001322477.2:c.962dup | NP_001309406.1:p.Thr322HisfsTer? | |
| NM_001322478.2:c.863dup | NP_001309407.1:p.Thr289HisfsTer? | |
| NM_001322479.2:c.863dup | NP_001309408.1:p.Thr289HisfsTer? | |
| NM_001322480.2:c.701dup | NP_001309409.1:p.Thr235HisfsTer? | |
| NM_001322481.2:c.701dup | NP_001309410.1:p.Thr235HisfsTer? | |
| NM_001322482.2:c.602dup | NP_001309411.1:p.Thr202HisfsTer? | |
| NM_001322483.2:c.593dup | NP_001309412.1:p.Thr199HisfsTer? | |
| NM_001322484.2:c.593dup | NP_001309413.1:p.Thr199HisfsTer? | |
| NM_001322485.2:c.494dup | NP_001309414.1:p.Thr166HisfsTer? | |
| NM_001322487.2:c.-11dup | NP_001309416.1:n.-11dup | |
| NM_001322489.2:c.-11dup | NP_001309418.1:n.-11dup |