Canonical Allele Identifier: CA2586444919

Gene: FUZ

Linked Data

• gnomAD v4: 19-49807286-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49807288del , CM000681.2:g.49807288del	GRCh38
NC_000019.9:g.50310545del , CM000681.1:g.50310545del	GRCh37
NC_000019.8:g.55002357del	NCBI36
NG_032843.1:g.11024del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313777.9:c.1121del MANE Select	ENSP00000313309.4:p.Pro374GlnfsTer?
ENST00000313777.8:c.1121del	ENSP00000313309.4:p.Pro374GlnfsTer?
ENST00000377092.8:c.*861del	ENSP00000366296.5:n.*861del
ENST00000525130.5:c.*775del	ENSP00000433492.1:n.*775del
ENST00000525370.5:c.*778del	ENSP00000431420.1:n.*778del
ENST00000528094.5:c.1013del	ENSP00000435177.1:p.Pro338GlnfsTer?
ENST00000529634.2:c.277del
ENST00000533418.5:c.971del	ENSP00000431731.1:p.Pro324GlnfsTer?
NM_001171937.1:c.1013del	NP_001165408.1:p.Pro338GlnfsTer?
NM_025129.4:c.1121del	NP_079405.2:p.Pro374GlnfsTer?
NR_033269.1:n.1240del
XM_006723399.2:c.*107del	XP_006723462.1:n.*107del
XM_011527339.1:c.1124del	XP_011525641.1:p.Pro375GlnfsTer?
XM_011527340.1:c.974del	XP_011525642.1:p.Pro325GlnfsTer?
XM_011527341.1:c.974del	XP_011525643.1:p.Pro325GlnfsTer?
XM_011527342.1:c.953del	XP_011525644.1:p.Pro318GlnfsTer?
XM_011527343.1:c.*107del	XP_011525645.1:n.*107del
XM_011527344.1:c.926del	XP_011525646.1:p.Pro309GlnfsTer?
XM_011527345.1:c.824del	XP_011525647.1:p.Pro275GlnfsTer?
XM_011527346.1:c.824del	XP_011525648.1:p.Pro275GlnfsTer?
XM_011527347.1:c.824del	XP_011525649.1:p.Pro275GlnfsTer?
XR_935862.1:n.1489del
NM_001352262.1:c.1124del	NP_001339191.1:p.Pro375GlnfsTer?
NM_001363663.1:c.971del	NP_001350592.1:p.Pro324GlnfsTer?
XM_006723399.3:c.*107del	XP_006723462.1:n.*107del
XM_011527341.2:c.974del	XP_011525643.1:p.Pro325GlnfsTer?
XM_011527342.2:c.953del	XP_011525644.1:p.Pro318GlnfsTer?
XM_017027321.1:c.821del	XP_016882810.1:p.Pro274GlnfsTer?
XM_017027322.2:c.*107del	XP_016882811.1:n.*107del
XM_024451729.1:c.953del	XP_024307497.1:p.Pro318GlnfsTer?
XM_024451730.1:c.950del	XP_024307498.1:p.Pro317GlnfsTer?
XR_001753764.1:n.1896del
XR_001753765.1:n.1196del
XR_002958363.1:n.2147del
XR_002958364.1:n.1893del
XR_002958365.1:n.1786del
NM_001171937.2:c.1013del	NP_001165408.1:p.Pro338GlnfsTer?
NM_001352262.2:c.1124del	NP_001339191.1:p.Pro375GlnfsTer?
NM_025129.5:c.1121del MANE Select	NP_079405.2:p.Pro374GlnfsTer?
NR_033269.2:n.1222del