Canonical Allele Identifier: CA212895
Community Standard Title: NM_030653.4(DDX11):c.2689_2691del (p.Lys897del)
Gene: DDX11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.31103729_31103731del , CM000674.2:g.31103729_31103731del GRCh38
NC_000012.11:g.31256663_31256665del , CM000674.1:g.31256663_31256665del GRCh37
NC_000012.10:g.31147930_31147932del NCBI36
NG_023352.1:g.34885_34887del

Transcript Alleles

HGVS Amino-acid Change
NM_030653.4:c.2689_2691del MANE Select NP_085911.2:p.Lys897del
ENST00000542838.6:c.2689_2691del MANE Select ENSP00000443426.1:p.Lys897del
NM_001257144.1:c.2684_2686del NP_001244073.1:p.Glu895del
NM_001257144.2:c.2684_2686del NP_001244073.1:p.Glu895del
NM_001257145.1:c.2611_2613del NP_001244074.1:p.Lys871del
NM_001257145.2:c.2611_2613del NP_001244074.1:p.Lys871del
NM_004399.2:c.2539_2541del NP_004390.3:p.Lys847del
NM_004399.3:c.2539_2541del NP_004390.3:p.Lys847del
NM_030653.3:c.2689_2691del NP_085911.2:p.Lys897del
NM_152438.1:c.2684_2686del NP_689651.1:p.Glu895del
NM_152438.2:c.2684_2686del NP_689651.1:p.Glu895del
ENST00000228264.10:c.2611_2613del ENSP00000228264.6:p.Lys871del
ENST00000350437.8:c.2539_2541del ENSP00000309965.5:p.Lys847del
ENST00000435753.6:c.*2033_*2035del ENSP00000406799.2:n.*2033_*2035del
ENST00000536265.5:n.3271_3273del
ENST00000538345.1:c.438_440del ENSP00000445219.1:n.438_440del
ENST00000539049.5:c.*1379-78_*1379-76del ENSP00000445568.1:n.*1379-78_*1379-76del
ENST00000539702.1:c.486_488del
ENST00000542838.5:c.2689_2691del ENSP00000443426.1:p.Lys897del
ENST00000545115.5:c.344_346del
ENST00000545668.5:c.2684_2686del ENSP00000440402.1:p.Glu895del
XM_005253331.2:c.2792_2794del XP_005253388.1:p.Glu931del
XM_005253331.4:c.2792_2794del XP_005253388.1:p.Glu931del
XM_005253333.2:c.2797_2799del XP_005253390.1:p.Lys933del
XM_005253333.4:c.2797_2799del XP_005253390.1:p.Lys933del
XM_006719041.2:c.2792_2794del XP_006719104.1:p.Glu931del
XM_006719043.2:c.2753_2755del XP_006719106.1:p.Glu918del
XM_006719044.1:c.2684_2686del XP_006719107.1:p.Glu895del
XM_006719045.2:c.2684_2686del XP_006719108.1:p.Glu895del
XM_006719046.2:c.2684_2686del XP_006719109.1:p.Glu895del
XM_006719047.2:c.2684_2686del XP_006719110.1:p.Glu895del
XM_006719048.1:c.2606_2608del XP_006719111.1:p.Glu869del
XM_006719049.2:c.2606_2608del XP_006719112.1:p.Glu869del
XM_006719050.2:c.2797_2799del XP_006719113.1:p.Lys933del
XM_006719050.4:c.2797_2799del XP_006719113.1:p.Lys933del
XM_006719051.2:c.2758_2760del XP_006719114.1:p.Lys920del
XM_006719053.2:c.2060_2062del XP_006719116.1:p.Glu687del
XM_011520592.1:c.2792_2794del XP_011518894.1:p.Glu931del
XM_011520592.3:c.2792_2794del XP_011518894.1:p.Glu931del
XM_011520593.1:c.2651_2653del XP_011518895.1:p.Glu884del
XM_011520594.1:c.2642_2644del XP_011518896.1:p.Glu881del
XM_011520595.1:c.2647_2649del XP_011518897.1:p.Lys883del
XM_011520595.3:c.2647_2649del XP_011518897.1:p.Lys883del
XM_011520596.1:c.1823_1825del XP_011518898.1:p.Glu608del
XM_017018918.2:c.2972_2974del XP_016874407.1:p.Glu991del
XM_017018919.2:c.2972_2974del XP_016874408.1:p.Glu991del
XM_017018920.2:c.2933_2935del XP_016874409.1:p.Glu978del
XM_017018921.2:c.2972_2974del XP_016874410.1:p.Glu991del
XM_017018922.1:c.2864_2866del XP_016874411.1:p.Glu955del
XM_017018923.1:c.2864_2866del XP_016874412.1:p.Glu955del
XM_017018924.2:c.2864_2866del XP_016874413.1:p.Glu955del
XM_017018925.1:c.2864_2866del XP_016874414.1:p.Glu955del
XM_017018926.2:c.2831_2833del XP_016874415.1:p.Glu944del
XM_017018927.2:c.2822_2824del XP_016874416.1:p.Glu941del
XM_017018928.2:c.2977_2979del XP_016874417.1:p.Lys993del
XM_017018929.2:c.2938_2940del XP_016874418.1:p.Lys980del
XM_017018930.2:c.2977_2979del XP_016874419.1:p.Lys993del
XM_017018931.1:c.2689_2691del XP_016874420.1:p.Lys897del
XM_017018932.1:c.2689_2691del XP_016874421.1:p.Lys897del
XM_017018933.2:c.2240_2242del XP_016874422.1:p.Glu747del
XM_017018934.1:c.*114_*116del XP_016874423.1:n.*114_*116del
XM_017018935.1:c.2003_2005del XP_016874424.1:p.Glu668del
XM_017018936.1:c.2003_2005del XP_016874425.1:p.Glu668del
XM_017018937.1:c.2003_2005del XP_016874426.1:p.Glu668del
XR_001748606.2:n.3219_3221del
XR_001748607.2:n.3182_3184del
XR_001748608.2:n.3214_3216del
XR_001748609.2:n.3289_3291del
XR_001748611.2:n.3140_3142del
XR_001748613.2:n.3165_3167del
XR_001748614.2:n.3091_3093del
XR_001748617.2:n.3241_3243del
XR_002957297.1:n.3420_3422del
XR_002957298.1:n.3170_3172del
XR_429031.2:n.3000_3002del
XR_429031.4:n.3035_3037del
XR_931278.1:n.2962_2964del
XR_931279.1:n.3069_3071del
XR_931281.1:n.2920_2922del