ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00007507 (SAS)
Exomes Max Group AF
0.00007125 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49422437dup , CM000665.2:g.49422437dup | GRCh38 |
| NC_000003.11:g.49459870dup , CM000665.1:g.49459870dup | GRCh37 |
| NC_000003.10:g.49434874dup | NCBI36 |
| NG_015986.1:g.5242dup , LRG_537:g.5242dup | |
| NG_033046.1:g.11888dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000273588.9:c.14dup (AMT) MANE Select | ENSP00000273588.3:p.Ser6LysfsTer22 | |
| ENST00000273598.8:c.*2396dup (NICN1) MANE Select | ENSP00000273598.4:n.*2396dup | |
| ENST00000395338.7:c.14dup (AMT) | ENSP00000378747.2:p.Ser6LysfsTer22 | |
| ENST00000427987.6:c.-117dup (AMT) | ENSP00000403821.2:n.-117dup | |
| ENST00000430521.2:c.14dup (AMT) | ENSP00000388068.2:p.Ser6LysfsTer22 | |
| ENST00000462048.2:c.-102+2dup (AMT) | ENSP00000490465.1:n.-102+2dup | |
| ENST00000465925.6:n.33dup (AMT) | ||
| ENST00000473163.2:n.27dup (AMT) | ||
| ENST00000476226.6:n.27dup (AMT) | ||
| ENST00000478594.6:n.33dup (AMT) | ||
| ENST00000480957.6:n.32dup (AMT) | ||
| ENST00000485108.6:n.221-166dup | ||
| ENST00000491800.3:n.36dup (AMT) | ||
| ENST00000493046.6:n.22dup (AMT) | ||
| ENST00000538581.6:c.-117dup (AMT) | ENSP00000443200.2:n.-117dup | |
| ENST00000635772.1:n.18dup (AMT) | ||
| ENST00000635808.1:c.14dup (AMT) | ENSP00000489620.1:p.Ser6LysfsTer22 | |
| ENST00000635889.1:n.37dup (AMT) | ||
| ENST00000636023.1:c.14dup (AMT) | ENSP00000489969.1:p.Ser6LysfsTer22 | |
| ENST00000636070.1:c.14dup (AMT) | ENSP00000490160.1:p.Ser6LysfsTer22 | |
| ENST00000636166.1:c.496-865dup | ENSP00000490106.1:n.496-865dup | |
| ENST00000636199.1:c.14dup (AMT) | ENSP00000490871.1:p.Ser6LysfsTer22 | |
| ENST00000636204.1:n.1207dup | ||
| ENST00000636461.1:c.3037dup | ||
| ENST00000636522.1:c.14dup (AMT) | ENSP00000489758.1:p.Ser6LysfsTer22 | |
| ENST00000636587.1:n.157dup (AMT) | ||
| ENST00000636597.1:c.14dup (AMT) | ENSP00000490251.1:p.Ser6LysfsTer22 | |
| ENST00000636725.1:n.18dup (AMT) | ||
| ENST00000636803.1:n.18dup (AMT) | ||
| ENST00000636865.1:c.-117dup (AMT) | ENSP00000490601.1:n.-117dup | |
| ENST00000636978.1:n.18dup (AMT) | ||
| ENST00000636991.1:n.37dup (AMT) | ||
| ENST00000637088.1:n.3480dup | ||
| ENST00000637114.1:n.6dup (AMT) | ||
| ENST00000637268.1:n.33dup (AMT) | ||
| ENST00000637291.1:n.22dup (AMT) | ||
| ENST00000637442.1:n.1420dup | ||
| ENST00000637457.1:n.55dup (AMT) | ||
| ENST00000637682.1:c.14dup (AMT) | ENSP00000489856.1:p.Ser6LysfsTer22 | |
| ENST00000637684.1:n.27dup (AMT) | ||
| ENST00000637821.1:c.14dup (AMT) | ENSP00000490482.1:p.Ser6LysfsTer22 | |
| ENST00000637914.1:n.33dup (AMT) | ||
| ENST00000637994.1:n.24dup (AMT) | ||
| ENST00000638014.1:c.2706dup | ||
| ENST00000638063.1:c.14dup (AMT) | ENSP00000489760.1:p.Ser6LysfsTer22 | |
| ENST00000638079.1:c.*607-166dup | ENSP00000490120.1:n.*607-166dup | |
| ENST00000638092.1:n.18dup (AMT) | ||
| ENST00000638115.1:c.*1852-166dup | ENSP00000490296.1:n.*1852-166dup | |
| ENST00000273588.7:c.14dup (AMT) | ENSP00000273588.3:p.Ser6LysfsTer22 | |
| ENST00000395338.6:c.14dup (AMT) | ENSP00000378747.2:p.Ser6LysfsTer22 | |
| ENST00000399379.6:c.14dup (AMT) | ENSP00000399943.1:p.Ser6LysfsTer22 | |
| ENST00000427987.5:c.6dup (AMT) | ||
| ENST00000430521.1:c.14dup (AMT) | ENSP00000388068.1:p.Ser6LysfsTer22 | |
| ENST00000458307.6:c.14dup (AMT) | ENSP00000415619.2:p.Ser6LysfsTer22 | |
| ENST00000462048.1:n.247+2dup (AMT) | ||
| ENST00000476226.5:n.93dup (AMT) | ||
| ENST00000478594.5:n.22dup (AMT) | ||
| ENST00000480957.5:n.22dup (AMT) | ||
| ENST00000485108.5:n.22dup (AMT) | ||
| ENST00000487589.5:n.27dup (AMT) | ||
| ENST00000493046.5:n.15dup (AMT) | ||
| ENST00000495436.5:n.15dup (AMT) | ||
| ENST00000498571.1:n.12dup (AMT) | ||
| ENST00000538581.5:c.14dup (AMT) | ENSP00000443200.1:p.Ser6LysfsTer22 | |
| NM_000481.3:c.14dup , LRG_537t1:c.14dup (AMT) | NP_000472.2:p.Ser6LysfsTer22 | |
| NM_001164710.1:c.14dup (AMT) | NP_001158182.1:p.Ser6LysfsTer22 | |
| NM_001164711.1:c.14dup (AMT) | NP_001158183.1:p.Ser6LysfsTer22 | |
| NM_001164712.1:c.14dup (AMT) | NP_001158184.1:p.Ser6LysfsTer22 | |
| NM_032316.3:c.*2396dup (NICN1) MANE Select | NP_115692.1:n.*2396dup | |
| NR_028435.1:n.242dup (AMT) | ||
| NM_000481.4:c.14dup (AMT) MANE Select | NP_000472.2:p.Ser6LysfsTer22 | |
| NM_001164710.2:c.14dup (AMT) | NP_001158182.1:p.Ser6LysfsTer22 | |
| NM_001164711.2:c.14dup (AMT) | NP_001158183.1:p.Ser6LysfsTer22 | |
| NM_001164712.2:c.14dup (AMT) | NP_001158184.1:p.Ser6LysfsTer22 | |
| NR_028435.2:n.37dup (AMT) |