Canonical Allele Identifier: CA2306406472
Gene: NEDD4L HGNC NCBI

Linked Data

dbSNP Id: rs2041849989

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.58336899del , CM000680.2:g.58336899del GRCh38
NC_000018.9:g.56004131del , CM000680.1:g.56004131del GRCh37
NC_000018.8:g.54155111del NCBI36
NG_029954.1:g.297522del

Transcript Alleles

HGVS Amino-acid change
ENST00000400345.8:c.1125+1362del MANE Select ENSP00000383199.2:n.1125+1362del
ENST00000635997.1:c.1962+1362del ENSP00000490696.1:n.1962+1362del
ENST00000674517.1:c.702+3007del ENSP00000501665.1:n.702+3007del
ENST00000674636.1:n.1205+3007del
ENST00000674845.1:c.*1571+3007del ENSP00000502309.1:n.*1571+3007del
ENST00000674856.1:n.863+3007del
ENST00000675147.1:c.1044+3007del ENSP00000501840.1:n.1044+3007del
ENST00000675221.1:c.990+3007del ENSP00000502761.1:n.990+3007del
ENST00000675434.1:n.929+3007del
ENST00000675502.1:c.702+3007del ENSP00000502428.1:n.702+3007del
ENST00000675801.1:c.702+3007del ENSP00000502688.1:n.702+3007del
ENST00000675865.1:c.702+3007del ENSP00000502003.1:n.702+3007del
ENST00000676024.1:c.1065+3007del ENSP00000502105.1:n.1065+3007del
ENST00000676223.1:c.1026+3007del ENSP00000502361.1:n.1026+3007del
ENST00000676226.1:c.702+3007del ENSP00000502325.1:n.702+3007del
ENST00000256830.13:c.1065+3007del ENSP00000256830.8:n.1065+3007del
ENST00000356462.10:c.1065+3007del ENSP00000348847.5:n.1065+3007del
ENST00000357895.9:c.1101+1362del ENSP00000350569.4:n.1101+1362del
ENST00000382850.8:c.1065+3007del ENSP00000372301.3:n.1065+3007del
ENST00000400345.7:c.1125+1362del ENSP00000383199.2:n.1125+1362del
ENST00000431212.6:c.762+1362del ENSP00000389406.1:n.762+1362del
ENST00000435432.6:c.702+3007del ENSP00000393395.1:n.702+3007del
ENST00000456173.6:c.702+3007del ENSP00000405440.1:n.702+3007del
ENST00000456986.5:c.762+1362del ENSP00000411947.1:n.762+1362del
ENST00000586263.5:c.1041+3007del ENSP00000468546.1:n.1041+3007del
ENST00000587881.1:c.567+3007del ENSP00000468332.1:n.567+3007del
ENST00000589054.5:c.49-53747del ENSP00000465669.1:n.49-53747del
NM_001144964.1:c.762+1362del NP_001138436.1:n.762+1362del
NM_001144965.1:c.762+1362del NP_001138437.1:n.762+1362del
NM_001144966.2:c.762+1362del NP_001138438.1:n.762+1362del
NM_001144967.2:c.1125+1362del NP_001138439.1:n.1125+1362del
NM_001144968.1:c.1101+1362del NP_001138440.1:n.1101+1362del
NM_001144969.1:c.1041+3007del NP_001138441.1:n.1041+3007del
NM_001144970.2:c.702+3007del NP_001138442.1:n.702+3007del
NM_001144971.1:c.702+3007del NP_001138443.1:n.702+3007del
NM_001243960.1:c.1065+3007del NP_001230889.1:n.1065+3007del
NM_015277.5:c.1065+3007del NP_056092.2:n.1065+3007del
XM_005266658.3:c.1026+1362del XP_005266715.2:n.1026+1362del
XM_005266660.3:c.1026+1362del XP_005266717.2:n.1026+1362del
XM_005266663.3:c.966+3007del XP_005266720.2:n.966+3007del
XM_006722421.2:c.966+3007del XP_006722484.2:n.966+3007del
XM_006722424.2:c.966+3007del XP_006722487.2:n.966+3007del
XM_006722425.2:c.966+3007del XP_006722488.2:n.966+3007del
XM_006722426.2:c.1203+1362del XP_006722489.1:n.1203+1362del
XM_006722428.2:c.1125+1362del XP_006722491.1:n.1125+1362del
XM_006722430.2:c.762+1362del XP_006722493.1:n.762+1362del
XM_011525887.1:c.1179+1362del XP_011524189.1:n.1179+1362del
XM_005266658.4:c.1026+1362del XP_005266715.2:n.1026+1362del
XM_005266660.4:c.1026+1362del XP_005266717.2:n.1026+1362del
XM_005266663.4:c.966+3007del XP_005266720.2:n.966+3007del
XM_006722421.4:c.966+3007del XP_006722484.2:n.966+3007del
XM_006722424.3:c.966+3007del XP_006722487.2:n.966+3007del
XM_006722425.3:c.966+3007del XP_006722488.2:n.966+3007del
XM_006722426.4:c.1203+1362del XP_006722489.1:n.1203+1362del
XM_006722428.4:c.1125+1362del XP_006722491.1:n.1125+1362del
XM_006722430.4:c.762+1362del XP_006722493.1:n.762+1362del
XM_011525887.3:c.1179+1362del XP_011524189.1:n.1179+1362del
XM_017025676.1:c.966+3007del XP_016881165.1:n.966+3007del
XM_017025677.1:c.966+3007del XP_016881166.1:n.966+3007del
XM_017025678.2:c.1065+3007del XP_016881167.1:n.1065+3007del
XM_017025679.2:c.762+1362del XP_016881168.1:n.762+1362del
XM_017025680.2:c.702+3007del XP_016881169.1:n.702+3007del
XM_017025681.2:c.702+3007del XP_016881170.1:n.702+3007del
XM_024451129.1:c.762+1362del XP_024306897.1:n.762+1362del
XM_024451130.1:c.702+3007del XP_024306898.1:n.702+3007del
XM_024451131.1:c.702+3007del XP_024306899.1:n.702+3007del
XM_024451132.1:c.702+3007del XP_024306900.1:n.702+3007del
XM_024451133.1:c.762+1362del XP_024306901.1:n.762+1362del
XM_024451134.1:c.762+1362del XP_024306902.1:n.762+1362del
XM_024451135.1:c.702+3007del XP_024306903.1:n.702+3007del
XM_024451136.1:c.702+3007del XP_024306904.1:n.702+3007del
XM_024451137.1:c.702+3007del XP_024306905.1:n.702+3007del
NM_001144967.3:c.1125+1362del MANE Select NP_001138439.1:n.1125+1362del
NM_001144965.2:c.762+1362del NP_001138437.1:n.762+1362del
NM_001144966.3:c.762+1362del NP_001138438.1:n.762+1362del
NM_001144968.2:c.1101+1362del NP_001138440.1:n.1101+1362del
NM_001144969.2:c.1041+3007del NP_001138441.1:n.1041+3007del
NM_001144970.3:c.702+3007del NP_001138442.1:n.702+3007del
NM_001144971.2:c.702+3007del NP_001138443.1:n.702+3007del
NM_001243960.2:c.1065+3007del NP_001230889.1:n.1065+3007del
NM_015277.6:c.1065+3007del NP_056092.2:n.1065+3007del