gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00002104 (SAS)
Exomes Max Group AF
0.00002194 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.36103764dup , CM000681.2:g.36103764dup | GRCh38 |
| NC_000019.9:g.36594666dup , CM000681.1:g.36594666dup | GRCh37 |
| NC_000019.8:g.41286506dup | NCBI36 |
| NG_028101.1:g.53884dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270301.12:c.3921dup | ENSP00000270301.6:p.Val1308ArgfsTer18 | |
| ENST00000401500.7:c.3936dup MANE Select | ENSP00000384792.1:p.Val1313ArgfsTer18 | |
| ENST00000587391.6:c.*3796dup | ENSP00000465525.1:n.*3796dup | |
| ENST00000679357.1:c.2016dup | ||
| ENST00000679598.1:c.701dup | ||
| ENST00000679682.1:c.3921dup | ENSP00000506226.1:p.Val1308ArgfsTer18 | |
| ENST00000679714.1:c.3930dup | ENSP00000506627.1:p.Val1311ArgfsTer18 | |
| ENST00000679757.1:c.3585dup | ENSP00000505158.1:p.Val1196ArgfsTer18 | |
| ENST00000679858.1:c.*3318dup | ENSP00000505655.1:n.*3318dup | |
| ENST00000680211.1:c.537dup | ENSP00000506102.1:p.Val180ArgfsTer18 | |
| ENST00000680280.1:n.1439dup | ||
| ENST00000680349.1:n.2585dup | ||
| ENST00000680403.1:c.3921dup | ENSP00000505677.1:p.Val1308ArgfsTer18 | |
| ENST00000680564.1:c.3687dup | ENSP00000505582.1:p.Val1230ArgfsTer18 | |
| ENST00000680590.1:c.*2316dup | ENSP00000505350.1:n.*2316dup | |
| ENST00000680597.1:c.669dup | ||
| ENST00000680739.1:c.951dup | ||
| ENST00000680773.1:n.2437dup | ||
| ENST00000680806.1:c.*3239dup | ENSP00000506418.1:n.*3239dup | |
| ENST00000680997.1:n.1868dup | ||
| ENST00000681608.1:n.1781dup | ||
| ENST00000681625.1:c.*1268dup | ENSP00000505555.1:n.*1268dup | |
| ENST00000681648.1:n.1451dup | ||
| ENST00000270301.11:c.3921dup | ENSP00000270301.6:p.Val1308ArgfsTer18 | |
| ENST00000401500.6:c.3936dup | ENSP00000384792.1:p.Val1313ArgfsTer18 | |
| ENST00000587391.5:c.*3796dup | ENSP00000465525.1:n.*3796dup | |
| NM_001083961.1:c.3936dup | NP_001077430.1:p.Val1313ArgfsTer18 | |
| NM_173636.4:c.3921dup | NP_775907.4:p.Val1308ArgfsTer18 | |
| XM_005258809.2:c.3825dup | XP_005258866.1:p.Val1276ArgfsTer18 | |
| XM_011526837.1:c.3921dup | XP_011525139.1:p.Val1308ArgfsTer18 | |
| XM_011526838.1:c.3687dup | XP_011525140.1:p.Val1230ArgfsTer18 | |
| XM_011526839.1:c.3585dup | XP_011525141.1:p.Val1196ArgfsTer18 | |
| XM_011526840.1:c.2928dup | XP_011525142.1:p.Val977ArgfsTer18 | |
| XM_011526841.1:c.2514dup | XP_011525143.1:p.Val839ArgfsTer18 | |
| XM_011526842.1:c.2367dup | XP_011525144.1:p.Val790ArgfsTer18 | |
| XM_011526843.1:c.1683dup | XP_011525145.1:p.Val562ArgfsTer18 | |
| XM_011526844.1:c.1683dup | XP_011525146.1:p.Val562ArgfsTer18 | |
| XM_011526840.2:c.2928dup | XP_011525142.1:p.Val977ArgfsTer18 | |
| XM_011526841.2:c.2514dup | XP_011525143.1:p.Val839ArgfsTer18 | |
| XM_011526844.2:c.1683dup | XP_011525146.1:p.Val562ArgfsTer18 | |
| XM_017026665.1:c.3936dup | XP_016882154.1:p.Val1313ArgfsTer18 | |
| NM_001083961.2:c.3936dup MANE Select | NP_001077430.1:p.Val1313ArgfsTer18 | |
| NM_173636.5:c.3921dup | NP_775907.4:p.Val1308ArgfsTer18 |