gnomAD v4:
Joint Max Group AF
0.00000398 (SAS)
Exomes Max Group AF
0.00000422 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3669506_3669517dup , CM000682.2:g.3669506_3669517dup | GRCh38 |
| NC_000020.10:g.3650153_3650164dup , CM000682.1:g.3650153_3650164dup | GRCh37 |
| NC_000020.9:g.3598153_3598164dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356518.7:c.2332+38_2332+49dup MANE Select | ENSP00000348912.3:n.2332+38_2332+49dup | |
| ENST00000350009.6:c.2254+38_2254+49dup | ENSP00000322550.5:n.2254+38_2254+49dup | |
| ENST00000356518.6:c.2332+38_2332+49dup | ENSP00000348912.2:n.2332+38_2332+49dup | |
| ENST00000379861.8:c.2332+38_2332+49dup | ENSP00000369190.4:n.2332+38_2332+49dup | |
| ENST00000466620.5:n.1893+38_1893+49dup | ||
| ENST00000483362.1:n.1118_1129dup | ||
| ENST00000617732.1:c.*1019+38_*1019+49dup | ENSP00000483343.1:n.*1019+38_*1019+49dup | |
| ENST00000619289.4:c.1972+38_1972+49dup | ENSP00000484600.1:n.1972+38_1972+49dup | |
| NM_001282447.1:c.2332+38_2332+49dup | NP_001269376.1:n.2332+38_2332+49dup | |
| NM_025220.3:c.2332+38_2332+49dup | NP_079496.1:n.2332+38_2332+49dup | |
| NM_153202.2:c.2254+38_2254+49dup | NP_694882.1:n.2254+38_2254+49dup | |
| XM_005260843.1:c.2371+38_2371+49dup | XP_005260900.1:n.2371+38_2371+49dup | |
| XM_006723639.1:c.2371+38_2371+49dup | XP_006723702.1:n.2371+38_2371+49dup | |
| XM_006723640.1:c.2362+38_2362+49dup | XP_006723703.1:n.2362+38_2362+49dup | |
| XM_011529366.1:c.2368+38_2368+49dup | XP_011527668.1:n.2368+38_2368+49dup | |
| XM_011529367.1:c.2329+38_2329+49dup | XP_011527669.1:n.2329+38_2329+49dup | |
| XM_011529368.1:c.2293+38_2293+49dup | XP_011527670.1:n.2293+38_2293+49dup | |
| XM_011529373.1:c.1369+38_1369+49dup | XP_011527675.1:n.1369+38_1369+49dup | |
| XR_937151.1:n.2384-138_2384-127dup | ||
| XR_937152.1:n.2384-138_2384-127dup | ||
| XR_937153.1:n.2356+38_2356+49dup | ||
| XR_937154.1:n.2356+38_2356+49dup | ||
| XR_937155.1:n.2277+38_2277+49dup | ||
| XR_937157.1:n.2279+38_2279+49dup | ||
| NM_001282447.2:c.2332+38_2332+49dup | NP_001269376.1:n.2332+38_2332+49dup | |
| NM_025220.4:c.2332+38_2332+49dup | NP_079496.1:n.2332+38_2332+49dup | |
| NM_153202.3:c.2254+38_2254+49dup | NP_694882.1:n.2254+38_2254+49dup | |
| XM_011529373.2:c.1369+38_1369+49dup | XP_011527675.1:n.1369+38_1369+49dup | |
| XR_001754405.1:n.2443+38_2443+49dup | ||
| XR_002958534.1:n.2552+38_2552+49dup | ||
| NM_001282447.3:c.2332+38_2332+49dup | NP_001269376.1:n.2332+38_2332+49dup | |
| NM_025220.5:c.2332+38_2332+49dup MANE Select | NP_079496.1:n.2332+38_2332+49dup | |
| NM_153202.4:c.2254+38_2254+49dup | NP_694882.1:n.2254+38_2254+49dup |