Canonical Allele Identifier: CA2576856717

Gene: FUZ

Linked Data

• gnomAD v4: 19-49807349-TTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49807351_49807352del , CM000681.2:g.49807351_49807352del	GRCh38
NC_000019.9:g.50310608_50310609del , CM000681.1:g.50310608_50310609del	GRCh37
NC_000019.8:g.55002420_55002421del	NCBI36
NG_032843.1:g.10960_10961del

Transcript Alleles

HGVS	Amino-acid change
ENST00000313777.9:c.1057_1058del MANE Select	ENSP00000313309.4:p.Glu353ArgfsTer2
ENST00000313777.8:c.1057_1058del	ENSP00000313309.4:p.Glu353ArgfsTer2
ENST00000377092.8:c.*797_*798del	ENSP00000366296.5:n.*797_*798del
ENST00000525130.5:c.*711_*712del	ENSP00000433492.1:n.*711_*712del
ENST00000525370.5:c.*714_*715del	ENSP00000431420.1:n.*714_*715del
ENST00000528094.5:c.949_950del	ENSP00000435177.1:p.Glu317ArgfsTer2
ENST00000529634.2:c.213_214del
ENST00000533418.5:c.907_908del	ENSP00000431731.1:p.Glu303ArgfsTer2
NM_001171937.1:c.949_950del	NP_001165408.1:p.Glu317ArgfsTer2
NM_025129.4:c.1057_1058del	NP_079405.2:p.Glu353ArgfsTer2
NR_033269.1:n.1176_1177del
XM_006723399.2:c.*43_*44del	XP_006723462.1:n.*43_*44del
XM_011527339.1:c.1060_1061del	XP_011525641.1:p.Glu354ArgfsTer2
XM_011527340.1:c.910_911del	XP_011525642.1:p.Glu304ArgfsTer2
XM_011527341.1:c.910_911del	XP_011525643.1:p.Glu304ArgfsTer2
XM_011527342.1:c.889_890del	XP_011525644.1:p.Glu297ArgfsTer2
XM_011527343.1:c.*43_*44del	XP_011525645.1:n.*43_*44del
XM_011527344.1:c.862_863del	XP_011525646.1:p.Glu288ArgfsTer2
XM_011527345.1:c.760_761del	XP_011525647.1:p.Glu254ArgfsTer2
XM_011527346.1:c.760_761del	XP_011525648.1:p.Glu254ArgfsTer2
XM_011527347.1:c.760_761del	XP_011525649.1:p.Glu254ArgfsTer2
XR_935862.1:n.1425_1426del
NM_001352262.1:c.1060_1061del	NP_001339191.1:p.Glu354ArgfsTer2
NM_001363663.1:c.907_908del	NP_001350592.1:p.Glu303ArgfsTer2
XM_006723399.3:c.*43_*44del	XP_006723462.1:n.*43_*44del
XM_011527341.2:c.910_911del	XP_011525643.1:p.Glu304ArgfsTer2
XM_011527342.2:c.889_890del	XP_011525644.1:p.Glu297ArgfsTer2
XM_017027321.1:c.757_758del	XP_016882810.1:p.Glu253ArgfsTer2
XM_017027322.2:c.*43_*44del	XP_016882811.1:n.*43_*44del
XM_024451729.1:c.889_890del	XP_024307497.1:p.Glu297ArgfsTer2
XM_024451730.1:c.886_887del	XP_024307498.1:p.Glu296ArgfsTer2
XR_001753764.1:n.1832_1833del
XR_001753765.1:n.1132_1133del
XR_002958363.1:n.2083_2084del
XR_002958364.1:n.1829_1830del
XR_002958365.1:n.1722_1723del
NM_001171937.2:c.949_950del	NP_001165408.1:p.Glu317ArgfsTer2
NM_001352262.2:c.1060_1061del	NP_001339191.1:p.Glu354ArgfsTer2
NM_025129.5:c.1057_1058del MANE Select	NP_079405.2:p.Glu353ArgfsTer2
NR_033269.2:n.1158_1159del