Canonical Allele Identifier: CA9584191
Community Standard Title: NM_025129.5(FUZ):c.1180_1182del (p.Leu394del)
Gene: FUZ HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.49807239_49807241del , CM000681.2:g.49807239_49807241del GRCh38
NC_000019.9:g.50310496_50310498del , CM000681.1:g.50310496_50310498del GRCh37
NC_000019.8:g.55002308_55002310del NCBI36
NG_032843.1:g.11083_11085del

Transcript Alleles

HGVS Amino-acid Change
NM_025129.5:c.1180_1182del MANE Select NP_079405.2:p.Leu394del
ENST00000313777.9:c.1180_1182del MANE Select ENSP00000313309.4:p.Leu394del
NM_001171937.1:c.1072_1074del NP_001165408.1:p.Leu358del
NM_001171937.2:c.1072_1074del NP_001165408.1:p.Leu358del
NM_001352262.1:c.1183_1185del NP_001339191.1:p.Leu395del
NM_001352262.2:c.1183_1185del NP_001339191.1:p.Leu395del
NM_001363663.1:c.1030_1032del NP_001350592.1:p.Leu344del
NM_025129.4:c.1180_1182del NP_079405.2:p.Leu394del
NR_033269.1:n.1299_1301del
NR_033269.2:n.1281_1283del
ENST00000313777.8:c.1180_1182del ENSP00000313309.4:p.Leu394del
ENST00000377092.8:c.*920_*922del ENSP00000366296.5:n.*920_*922del
ENST00000525130.5:c.*834_*836del ENSP00000433492.1:n.*834_*836del
ENST00000525370.5:c.*837_*839del ENSP00000431420.1:n.*837_*839del
ENST00000528094.5:c.1072_1074del ENSP00000435177.1:p.Leu358del
ENST00000529634.2:c.336_338del
ENST00000533418.5:c.1030_1032del ENSP00000431731.1:p.Leu344del
XM_006723399.2:c.*166_*168del XP_006723462.1:n.*166_*168del
XM_006723399.3:c.*166_*168del XP_006723462.1:n.*166_*168del
XM_011527339.1:c.1183_1185del XP_011525641.1:p.Leu395del
XM_011527340.1:c.1033_1035del XP_011525642.1:p.Leu345del
XM_011527341.1:c.1033_1035del XP_011525643.1:p.Leu345del
XM_011527341.2:c.1033_1035del XP_011525643.1:p.Leu345del
XM_011527342.1:c.1012_1014del XP_011525644.1:p.Leu338del
XM_011527342.2:c.1012_1014del XP_011525644.1:p.Leu338del
XM_011527343.1:c.*166_*168del XP_011525645.1:n.*166_*168del
XM_011527344.1:c.985_987del XP_011525646.1:p.Leu329del
XM_011527345.1:c.883_885del XP_011525647.1:p.Leu295del
XM_011527346.1:c.883_885del XP_011525648.1:p.Leu295del
XM_011527347.1:c.883_885del XP_011525649.1:p.Leu295del
XM_017027321.1:c.880_882del XP_016882810.1:p.Leu294del
XM_017027322.2:c.*166_*168del XP_016882811.1:n.*166_*168del
XM_024451729.1:c.1012_1014del XP_024307497.1:p.Leu338del
XM_024451730.1:c.1009_1011del XP_024307498.1:p.Leu337del
XR_001753764.1:n.1955_1957del
XR_001753765.1:n.1255_1257del
XR_002958363.1:n.2206_2208del
XR_002958364.1:n.1952_1954del
XR_002958365.1:n.1845_1847del