Linked Data
dbSNP Id:
rs1380816298
gnomAD v2:
16-56548246-CCTATA-C
gnomAD v3:
16-56514334-CCTATA-C
gnomAD v4:
16-56514334-CCTATA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56514340_56514344del , CM000678.2:g.56514340_56514344del | GRCh38 |
| NC_000016.9:g.56548252_56548256del , CM000678.1:g.56548252_56548256del | GRCh37 |
| NC_000016.8:g.55105753_55105757del | NCBI36 |
| NG_009312.1:g.10945_10949del | |
| NG_009312.2:g.10686_10690del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000562012.2:c.*319+114_*319+118del | ENSP00000455651.2:n.*319+114_*319+118del | |
| ENST00000562059.2:n.342+114_342+118del | ||
| ENST00000565378.2:n.228+114_228+118del | ||
| ENST00000565781.6:n.359+114_359+118del | ||
| ENST00000566410.2:n.558+114_558+118del | ||
| ENST00000568104.6:c.345+114_345+118del | ENSP00000456289.1:n.345+114_345+118del | |
| ENST00000569342.6:n.518+114_518+118del | ||
| ENST00000569941.6:c.-129+114_-129+118del | ENSP00000456741.2:n.-129+114_-129+118del | |
| ENST00000682001.1:n.339+114_339+118del | ||
| ENST00000682005.1:n.336+114_336+118del | ||
| ENST00000682021.1:n.355+114_355+118del | ||
| ENST00000682038.1:c.345+114_345+118del | ENSP00000508404.1:n.345+114_345+118del | |
| ENST00000682047.1:c.345+114_345+118del | ENSP00000507699.1:n.345+114_345+118del | |
| ENST00000682088.1:c.345+114_345+118del | ENSP00000508064.1:n.345+114_345+118del | |
| ENST00000682096.1:n.551+114_551+118del | ||
| ENST00000682113.1:n.318+114_318+118del | ||
| ENST00000682146.1:n.558+114_558+118del | ||
| ENST00000682187.1:c.345+114_345+118del | ENSP00000507203.1:n.345+114_345+118del | |
| ENST00000682188.1:c.345+114_345+118del | ENSP00000507655.1:n.345+114_345+118del | |
| ENST00000682201.1:n.336+114_336+118del | ||
| ENST00000682205.1:c.345+114_345+118del | ENSP00000508377.1:n.345+114_345+118del | |
| ENST00000682348.1:c.345+114_345+118del | ENSP00000506965.1:n.345+114_345+118del | |
| ENST00000682360.1:c.-253+114_-253+118del | ENSP00000508007.1:n.-253+114_-253+118del | |
| ENST00000682370.1:n.551+114_551+118del | ||
| ENST00000682420.1:n.551+114_551+118del | ||
| ENST00000682429.1:c.345+114_345+118del | ENSP00000506827.1:n.345+114_345+118del | |
| ENST00000682449.1:c.345+114_345+118del | ENSP00000507836.1:n.345+114_345+118del | |
| ENST00000682470.1:c.345+114_345+118del | ENSP00000507654.1:n.345+114_345+118del | |
| ENST00000682473.1:n.310+114_310+118del | ||
| ENST00000682482.1:c.345+114_345+118del | ENSP00000507903.1:n.345+114_345+118del | |
| ENST00000682492.1:n.389+114_389+118del | ||
| ENST00000682493.1:c.345+114_345+118del | ENSP00000506778.1:n.345+114_345+118del | |
| ENST00000682543.1:c.345+114_345+118del | ENSP00000507592.1:n.345+114_345+118del | |
| ENST00000682561.1:n.354+114_354+118del | ||
| ENST00000682597.1:n.551+114_551+118del | ||
| ENST00000682658.1:c.345+114_345+118del | ENSP00000507773.1:n.345+114_345+118del | |
| ENST00000682705.1:n.551+114_551+118del | ||
| ENST00000682723.1:c.-253+114_-253+118del | ENSP00000507115.1:n.-253+114_-253+118del | |
| ENST00000682735.1:c.345+114_345+118del | ENSP00000507007.1:n.345+114_345+118del | |
| ENST00000682737.1:c.-253+114_-253+118del | ENSP00000506876.1:n.-253+114_-253+118del | |
| ENST00000682757.1:n.551+114_551+118del | ||
| ENST00000682855.1:c.345+114_345+118del | ENSP00000507027.1:n.345+114_345+118del | |
| ENST00000682857.1:n.558+114_558+118del | ||
| ENST00000682875.1:c.345+114_345+118del | ENSP00000507771.1:n.345+114_345+118del | |
| ENST00000682919.1:n.307+114_307+118del | ||
| ENST00000682930.1:c.270+114_270+118del | ENSP00000507981.1:n.270+114_270+118del | |
| ENST00000682948.1:n.558+114_558+118del | ||
| ENST00000682960.1:n.558+114_558+118del | ||
| ENST00000683008.1:n.551+114_551+118del | ||
| ENST00000683020.1:c.345+114_345+118del | ENSP00000507944.1:n.345+114_345+118del | |
| ENST00000683099.1:n.551+114_551+118del | ||
| ENST00000683170.1:n.489+114_489+118del | ||
| ENST00000683212.1:c.345+114_345+118del | ENSP00000507839.1:n.345+114_345+118del | |
| ENST00000683248.1:n.551+114_551+118del | ||
| ENST00000683343.1:n.336+114_336+118del | ||
| ENST00000683347.1:n.336+114_336+118del | ||
| ENST00000683384.1:c.228+114_228+118del | ENSP00000508330.1:n.228+114_228+118del | |
| ENST00000683396.1:n.551+114_551+118del | ||
| ENST00000683410.1:n.551+114_551+118del | ||
| ENST00000683485.1:n.558+114_558+118del | ||
| ENST00000683504.1:n.551+114_551+118del | ||
| ENST00000683533.1:c.-253+114_-253+118del | ENSP00000508296.1:n.-253+114_-253+118del | |
| ENST00000683609.1:n.558+114_558+118del | ||
| ENST00000683644.1:c.345+114_345+118del | ENSP00000507914.1:n.345+114_345+118del | |
| ENST00000683660.1:n.558+114_558+118del | ||
| ENST00000683669.1:n.228+114_228+118del | ||
| ENST00000683690.1:c.345+114_345+118del | ENSP00000508152.1:n.345+114_345+118del | |
| ENST00000683719.1:n.328+114_328+118del | ||
| ENST00000683757.1:n.334+114_334+118del | ||
| ENST00000683858.1:c.345+114_345+118del | ENSP00000507657.1:n.345+114_345+118del | |
| ENST00000683875.1:c.118-3055_118-3051del | ENSP00000507602.1:n.118-3055_118-3051del | |
| ENST00000683904.1:n.558+114_558+118del | ||
| ENST00000683910.1:n.558+114_558+118del | ||
| ENST00000683959.1:c.-253+114_-253+118del | ENSP00000508309.1:n.-253+114_-253+118del | |
| ENST00000683976.1:c.345+114_345+118del | ENSP00000507183.1:n.345+114_345+118del | |
| ENST00000683978.1:n.488+114_488+118del | ||
| ENST00000683992.1:c.345+114_345+118del | ENSP00000508144.1:n.345+114_345+118del | |
| ENST00000684020.1:n.551+114_551+118del | ||
| ENST00000684044.1:n.558+114_558+118del | ||
| ENST00000684057.1:n.547+114_547+118del | ||
| ENST00000684076.1:n.516+114_516+118del | ||
| ENST00000684128.1:n.551+114_551+118del | ||
| ENST00000684194.1:n.551+114_551+118del | ||
| ENST00000684205.1:n.389+114_389+118del | ||
| ENST00000684246.1:c.345+114_345+118del | ENSP00000508273.1:n.345+114_345+118del | |
| ENST00000684402.1:n.551+114_551+118del | ||
| ENST00000684446.1:n.558+114_558+118del | ||
| ENST00000684531.1:n.578+114_578+118del | ||
| ENST00000684635.1:c.345+114_345+118del | ENSP00000507335.1:n.345+114_345+118del | |
| ENST00000684640.1:c.228+114_228+118del | ENSP00000507292.1:n.228+114_228+118del | |
| ENST00000684673.1:c.345+114_345+118del | ENSP00000507746.1:n.345+114_345+118del | |
| ENST00000684684.1:c.345+114_345+118del | ENSP00000507026.1:n.345+114_345+118del | |
| ENST00000245157.11:c.345+114_345+118del MANE Select | ENSP00000245157.5:n.345+114_345+118del | |
| ENST00000245157.9:c.345+114_345+118del | ENSP00000245157.5:n.345+114_345+118del | |
| ENST00000565378.1:n.328+114_328+118del | ||
| ENST00000565781.5:n.359+114_359+118del | ||
| ENST00000566689.5:n.336+114_336+118del | ||
| ENST00000568104.5:c.345+114_345+118del | ENSP00000456289.1:n.345+114_345+118del | |
| ENST00000569342.5:n.479+114_479+118del | ||
| ENST00000569941.5:c.-253+114_-253+118del | ENSP00000456741.1:n.-253+114_-253+118del | |
| NM_031885.3:c.345+114_345+118del | NP_114091.3:n.345+114_345+118del | |
| XM_005256080.1:c.345+114_345+118del | XP_005256137.1:n.345+114_345+118del | |
| XM_005256081.1:c.345+114_345+118del | XP_005256138.1:n.345+114_345+118del | |
| XM_005256082.1:c.345+114_345+118del | XP_005256139.1:n.345+114_345+118del | |
| XM_011523251.1:c.345+114_345+118del | XP_011521553.1:n.345+114_345+118del | |
| XR_933378.1:n.578+114_578+118del | ||
| XR_933379.1:n.578+114_578+118del | ||
| XR_933380.1:n.578+114_578+118del | ||
| XM_005256080.2:c.345+114_345+118del | XP_005256137.1:n.345+114_345+118del | |
| XR_001751958.1:n.578+114_578+118del | ||
| XR_001751959.2:n.578+114_578+118del | ||
| XR_001751960.1:n.578+114_578+118del | ||
| XR_001751961.1:n.578+114_578+118del | ||
| XR_933380.2:n.578+114_578+118del | ||
| NM_031885.4:c.345+114_345+118del | NP_114091.3:n.345+114_345+118del | |
| NM_001377456.1:c.345+114_345+118del | NP_001364385.1:n.345+114_345+118del | |
| NM_031885.5:c.345+114_345+118del MANE Select | NP_114091.4:n.345+114_345+118del | |
| NR_165293.1:n.507+114_507+118del | ||
| NR_165294.1:n.507+114_507+118del | ||
| NR_165295.1:n.507+114_507+118del | ||
| NR_165296.1:n.507+114_507+118del | ||
| NR_165297.1:n.507+114_507+118del |