Linked Data
ClinVar Variation Id:
3255
ClinVar RCV Id:
RCV000003411
RCV000081487
RCV000546035
RCV000778874
RCV001391256
RCV002496244
RCV002512706
RCV003398430
RCV003225921
dbSNP Id:
rs398124245
ExAC:
9:134398412 C / CG
gnomAD v2:
9-134398412-C-CG
gnomAD v3:
9-131523025-C-CG
gnomAD v4:
9-131523025-C-CG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131523029dup , CM000671.2:g.131523029dup | GRCh38 |
| NC_000009.11:g.134398416dup , CM000671.1:g.134398416dup | GRCh37 |
| NC_000009.10:g.133388237dup | NCBI36 |
| NG_008896.1:g.25128dup | |
| NG_008896.2:g.25128dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1939dup | ENSP00000343034.7:p.Asp647GlyfsTer8 | |
| ENST00000404875.7:n.2641dup | ||
| ENST00000423007.6:c.2158dup | ENSP00000404119.2:p.Asp720GlyfsTer8 | |
| ENST00000677295.2:c.*2445dup | ENSP00000504346.2:n.*2445dup | |
| ENST00000678264.2:c.*2284dup | ENSP00000503157.2:n.*2284dup | |
| ENST00000682070.1:n.2411dup | ||
| ENST00000682639.1:c.98dup | ||
| ENST00000682813.1:n.2498dup | ||
| ENST00000683231.1:c.98dup | ||
| ENST00000683392.1:n.4693dup | ||
| ENST00000683712.1:n.2506dup | ||
| ENST00000683900.1:n.4001dup | ||
| ENST00000684062.1:n.2767dup | ||
| ENST00000684399.1:c.98dup | ||
| ENST00000684579.1:n.3947dup | ||
| ENST00000341012.12:c.1939dup | ENSP00000343034.7:p.Asp647GlyfsTer8 | |
| ENST00000372220.5:c.970dup | ENSP00000361294.5:p.Asp324GlyfsTer8 | |
| ENST00000372228.9:c.2167dup | ENSP00000361302.3:p.Asp723GlyfsTer8 | |
| ENST00000402686.8:c.2101dup MANE Select | ENSP00000385797.4:p.Asp701GlyfsTer8 | |
| ENST00000676640.1:c.2101dup | ENSP00000503281.1:p.Asp701GlyfsTer8 | |
| ENST00000676803.1:c.1162dup | ENSP00000503093.1:p.Asp388GlyfsTer8 | |
| ENST00000676835.1:c.*1316dup | ENSP00000502911.1:n.*1316dup | |
| ENST00000677029.1:c.1645dup | ENSP00000502936.1:p.Asp549GlyfsTer8 | |
| ENST00000677099.1:c.*1811dup | ENSP00000504553.1:n.*1811dup | |
| ENST00000677216.1:c.1750dup | ENSP00000503772.1:p.Asp584GlyfsTer8 | |
| ENST00000677295.1:c.*1323dup | ENSP00000504346.1:n.*1323dup | |
| ENST00000677444.1:c.2046dup | ||
| ENST00000677586.1:n.1468dup | ||
| ENST00000677626.1:c.1750dup | ENSP00000503552.1:p.Asp584GlyfsTer8 | |
| ENST00000677853.1:c.*1109dup | ENSP00000503488.1:n.*1109dup | |
| ENST00000678264.1:c.*1478dup | ENSP00000503157.1:n.*1478dup | |
| ENST00000678303.1:c.2011dup | ENSP00000503696.1:p.Asp671GlyfsTer8 | |
| ENST00000678366.1:c.*2350dup | ENSP00000504353.1:n.*2350dup | |
| ENST00000678546.1:c.*2046dup | ENSP00000503062.1:n.*2046dup | |
| ENST00000678548.1:c.*2240dup | ENSP00000503934.1:n.*2240dup | |
| ENST00000678626.1:n.1937dup | ||
| ENST00000678739.1:c.*2267dup | ENSP00000503806.1:n.*2267dup | |
| ENST00000678833.1:c.*1853dup | ENSP00000503893.1:n.*1853dup | |
| ENST00000679023.1:c.1939dup | ENSP00000503718.1:p.Asp647GlyfsTer8 | |
| ENST00000679076.1:c.1720dup | ||
| ENST00000679111.1:c.*857dup | ENSP00000504257.1:n.*857dup | |
| ENST00000679189.1:c.1750dup | ENSP00000503356.1:p.Asp584GlyfsTer8 | |
| ENST00000341012.11:c.1939dup | ENSP00000343034.7:p.Asp647GlyfsTer8 | |
| ENST00000372220.4:c.964dup | ENSP00000361294.4:p.Asp322GlyfsTer8 | |
| ENST00000372228.7:c.2167dup | ENSP00000361302.3:p.Asp723GlyfsTer8 | |
| ENST00000402686.7:c.2101dup | ENSP00000385797.3:p.Asp701GlyfsTer8 | |
| ENST00000404875.6:c.1750dup | ENSP00000384531.2:p.Asp584GlyfsTer8 | |
| ENST00000423007.5:c.2101dup | ENSP00000404119.1:p.Asp701GlyfsTer8 | |
| ENST00000485278.5:n.2651dup | ||
| NM_001077365.1:c.2101dup | NP_001070833.1:p.Asp701GlyfsTer8 | |
| NM_001077366.1:c.1939dup | NP_001070834.1:p.Asp647GlyfsTer8 | |
| NM_001136113.1:c.2101dup | NP_001129585.1:p.Asp701GlyfsTer8 | |
| NM_001136114.1:c.1750dup | NP_001129586.1:p.Asp584GlyfsTer8 | |
| NM_007171.3:c.2167dup | NP_009102.3:p.Asp723GlyfsTer8 | |
| XM_005272156.1:c.2167dup | XP_005272213.1:p.Asp723GlyfsTer8 | |
| XM_005272158.1:c.2005dup | XP_005272215.1:p.Asp669GlyfsTer8 | |
| XM_005272159.1:c.1816dup | XP_005272216.1:p.Asp606GlyfsTer8 | |
| XM_005272162.1:c.970dup | XP_005272219.1:p.Asp324GlyfsTer8 | |
| XM_006716932.1:c.1816dup | XP_006716995.1:p.Asp606GlyfsTer8 | |
| XM_011518140.1:c.2020dup | XP_011516442.1:p.Asp674GlyfsTer8 | |
| XM_011518141.1:c.1954dup | XP_011516443.1:p.Asp652GlyfsTer8 | |
| XM_011518142.1:c.1858dup | XP_011516444.1:p.Asp620GlyfsTer8 | |
| XM_011518143.1:c.1852dup | XP_011516445.1:p.Asp618GlyfsTer8 | |
| XM_011518145.1:c.1711dup | XP_011516447.1:p.Asp571GlyfsTer8 | |
| XM_011518147.1:c.1039dup | XP_011516449.1:p.Asp347GlyfsTer8 | |
| XR_929703.1:n.2343dup | ||
| NM_001353193.1:c.2167dup | NP_001340122.1:p.Asp723GlyfsTer8 | |
| NM_001353194.1:c.1939dup | NP_001340123.1:p.Asp647GlyfsTer8 | |
| NM_001353195.1:c.1750dup | NP_001340124.1:p.Asp584GlyfsTer8 | |
| NM_001353196.1:c.2011dup | NP_001340125.1:p.Asp671GlyfsTer8 | |
| NM_001353197.1:c.2005dup | NP_001340126.1:p.Asp669GlyfsTer8 | |
| NM_001353198.1:c.2005dup | NP_001340127.1:p.Asp669GlyfsTer8 | |
| NM_001353199.1:c.1816dup | NP_001340128.1:p.Asp606GlyfsTer8 | |
| NM_001353200.1:c.1645dup | NP_001340129.1:p.Asp549GlyfsTer8 | |
| NR_148391.1:n.2151dup | ||
| NR_148392.1:n.2369dup | ||
| NR_148393.1:n.2290dup | ||
| NR_148394.1:n.2044dup | ||
| NR_148395.1:n.2442dup | ||
| NR_148396.1:n.2076dup | ||
| NR_148397.1:n.2201dup | ||
| NR_148398.1:n.2156dup | ||
| NR_148399.1:n.2682dup | ||
| NR_148400.1:n.2281dup | ||
| XM_005272162.3:c.970dup | XP_005272219.1:p.Asp324GlyfsTer8 | |
| XM_006716932.2:c.1816dup | XP_006716995.1:p.Asp606GlyfsTer8 | |
| XM_011518140.2:c.2020dup | XP_011516442.1:p.Asp674GlyfsTer8 | |
| XM_011518141.2:c.1954dup | XP_011516443.1:p.Asp652GlyfsTer8 | |
| XM_011518142.2:c.1858dup | XP_011516444.1:p.Asp620GlyfsTer8 | |
| XM_011518143.2:c.1852dup | XP_011516445.1:p.Asp618GlyfsTer8 | |
| XM_011518145.2:c.1711dup | XP_011516447.1:p.Asp571GlyfsTer8 | |
| XM_017014205.2:c.970dup | XP_016869694.1:p.Asp324GlyfsTer8 | |
| XM_024447380.1:c.970dup | XP_024303148.1:p.Asp324GlyfsTer8 | |
| XM_024447381.1:c.1276dup | XP_024303149.1:p.Asp426GlyfsTer8 | |
| XM_024447382.1:c.970dup | XP_024303150.1:p.Asp324GlyfsTer8 | |
| XR_001746160.2:n.2271dup | ||
| XR_001746162.2:n.2476dup | ||
| XR_001746164.1:n.2193dup | ||
| XR_001746166.2:n.2488dup | ||
| NM_001077365.2:c.2101dup MANE Select | NP_001070833.1:p.Asp701GlyfsTer8 | |
| NM_001077366.2:c.1939dup | NP_001070834.1:p.Asp647GlyfsTer8 | |
| NM_001136113.2:c.2101dup | NP_001129585.1:p.Asp701GlyfsTer8 | |
| NM_001136114.2:c.1750dup | NP_001129586.1:p.Asp584GlyfsTer8 | |
| NM_001353193.2:c.2167dup | NP_001340122.2:p.Asp723GlyfsTer8 | |
| NM_001353194.2:c.1939dup | NP_001340123.1:p.Asp647GlyfsTer8 | |
| NM_001353195.2:c.1750dup | NP_001340124.1:p.Asp584GlyfsTer8 | |
| NM_001353196.2:c.2011dup | NP_001340125.1:p.Asp671GlyfsTer8 | |
| NM_001353197.2:c.2005dup | NP_001340126.2:p.Asp669GlyfsTer8 | |
| NM_001353198.2:c.2005dup | NP_001340127.2:p.Asp669GlyfsTer8 | |
| NM_001353199.2:c.1816dup | NP_001340128.2:p.Asp606GlyfsTer8 | |
| NM_001353200.2:c.1645dup | NP_001340129.1:p.Asp549GlyfsTer8 | |
| NM_001374689.1:c.2089dup | NP_001361618.1:p.Asp697GlyfsTer8 | |
| NM_001374690.1:c.1882dup | NP_001361619.1:p.Asp628GlyfsTer8 | |
| NM_001374691.1:c.1750dup | NP_001361620.1:p.Asp584GlyfsTer8 | |
| NM_001374692.1:c.1750dup | NP_001361621.1:p.Asp584GlyfsTer8 | |
| NM_001374693.1:c.1750dup | NP_001361622.1:p.Asp584GlyfsTer8 | |
| NM_001374695.1:c.1711dup | NP_001361624.1:p.Asp571GlyfsTer8 | |
| NM_007171.4:c.2167dup | NP_009102.4:p.Asp723GlyfsTer8 | |
| NR_148391.2:n.2135dup | ||
| NR_148392.2:n.2353dup | ||
| NR_148393.2:n.2274dup | ||
| NR_148394.2:n.2028dup | ||
| NR_148395.2:n.2426dup | ||
| NR_148396.2:n.2060dup | ||
| NR_148397.2:n.2185dup | ||
| NR_148398.2:n.2140dup | ||
| NR_148399.2:n.2666dup | ||
| NR_148400.2:n.2265dup |