Canonical Allele Identifier: CA2576856716

Gene: FUZ

Linked Data

• gnomAD v4: 19-49807346-ATCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49807350_49807352del , CM000681.2:g.49807350_49807352del	GRCh38
NC_000019.9:g.50310607_50310609del , CM000681.1:g.50310607_50310609del	GRCh37
NC_000019.8:g.55002419_55002421del	NCBI36
NG_032843.1:g.10962_10964del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313777.9:c.1059_1061del MANE Select	ENSP00000313309.4:p.Glu353del
ENST00000313777.8:c.1059_1061del	ENSP00000313309.4:p.Glu353del
ENST00000377092.8:c.*799_*801del	ENSP00000366296.5:n.*799_*801del
ENST00000525130.5:c.*713_*715del	ENSP00000433492.1:n.*713_*715del
ENST00000525370.5:c.*716_*718del	ENSP00000431420.1:n.*716_*718del
ENST00000528094.5:c.951_953del	ENSP00000435177.1:p.Glu317del
ENST00000529634.2:c.215_217del
ENST00000533418.5:c.909_911del	ENSP00000431731.1:p.Glu303del
NM_001171937.1:c.951_953del	NP_001165408.1:p.Glu317del
NM_025129.4:c.1059_1061del	NP_079405.2:p.Glu353del
NR_033269.1:n.1178_1180del
XM_006723399.2:c.*45_*47del	XP_006723462.1:n.*45_*47del
XM_011527339.1:c.1062_1064del	XP_011525641.1:p.Glu354del
XM_011527340.1:c.912_914del	XP_011525642.1:p.Glu304del
XM_011527341.1:c.912_914del	XP_011525643.1:p.Glu304del
XM_011527342.1:c.891_893del	XP_011525644.1:p.Glu297del
XM_011527343.1:c.*45_*47del	XP_011525645.1:n.*45_*47del
XM_011527344.1:c.864_866del	XP_011525646.1:p.Glu288del
XM_011527345.1:c.762_764del	XP_011525647.1:p.Glu254del
XM_011527346.1:c.762_764del	XP_011525648.1:p.Glu254del
XM_011527347.1:c.762_764del	XP_011525649.1:p.Glu254del
XR_935862.1:n.1427_1429del
NM_001352262.1:c.1062_1064del	NP_001339191.1:p.Glu354del
NM_001363663.1:c.909_911del	NP_001350592.1:p.Glu303del
XM_006723399.3:c.*45_*47del	XP_006723462.1:n.*45_*47del
XM_011527341.2:c.912_914del	XP_011525643.1:p.Glu304del
XM_011527342.2:c.891_893del	XP_011525644.1:p.Glu297del
XM_017027321.1:c.759_761del	XP_016882810.1:p.Glu253del
XM_017027322.2:c.*45_*47del	XP_016882811.1:n.*45_*47del
XM_024451729.1:c.891_893del	XP_024307497.1:p.Glu297del
XM_024451730.1:c.888_890del	XP_024307498.1:p.Glu296del
XR_001753764.1:n.1834_1836del
XR_001753765.1:n.1134_1136del
XR_002958363.1:n.2085_2087del
XR_002958364.1:n.1831_1833del
XR_002958365.1:n.1724_1726del
NM_001171937.2:c.951_953del	NP_001165408.1:p.Glu317del
NM_001352262.2:c.1062_1064del	NP_001339191.1:p.Glu354del
NM_025129.5:c.1059_1061del MANE Select	NP_079405.2:p.Glu353del
NR_033269.2:n.1160_1162del