Canonical Allele Identifier: CA2841204220

Gene: FUZ

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49807258dup , CM000681.2:g.49807258dup	GRCh38
NC_000019.9:g.50310515dup , CM000681.1:g.50310515dup	GRCh37
NC_000019.8:g.55002327dup	NCBI36
NG_032843.1:g.11053dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313777.9:c.1150dup MANE Select	ENSP00000313309.4:p.Gln384ProfsTer?
ENST00000313777.8:c.1150dup	ENSP00000313309.4:p.Gln384ProfsTer?
ENST00000377092.8:c.*890dup	ENSP00000366296.5:n.*890dup
ENST00000525130.5:c.*804dup	ENSP00000433492.1:n.*804dup
ENST00000525370.5:c.*807dup	ENSP00000431420.1:n.*807dup
ENST00000528094.5:c.1042dup	ENSP00000435177.1:p.Gln348ProfsTer?
ENST00000529634.2:c.306dup
ENST00000533418.5:c.1000dup	ENSP00000431731.1:p.Gln334ProfsTer?
NM_001171937.1:c.1042dup	NP_001165408.1:p.Gln348ProfsTer?
NM_025129.4:c.1150dup	NP_079405.2:p.Gln384ProfsTer?
NR_033269.1:n.1269dup
XM_006723399.2:c.*136dup	XP_006723462.1:n.*136dup
XM_011527339.1:c.1153dup	XP_011525641.1:p.Gln385ProfsTer?
XM_011527340.1:c.1003dup	XP_011525642.1:p.Gln335ProfsTer?
XM_011527341.1:c.1003dup	XP_011525643.1:p.Gln335ProfsTer?
XM_011527342.1:c.982dup	XP_011525644.1:p.Gln328ProfsTer?
XM_011527343.1:c.*136dup	XP_011525645.1:n.*136dup
XM_011527344.1:c.955dup	XP_011525646.1:p.Gln319ProfsTer?
XM_011527345.1:c.853dup	XP_011525647.1:p.Gln285ProfsTer?
XM_011527346.1:c.853dup	XP_011525648.1:p.Gln285ProfsTer?
XM_011527347.1:c.853dup	XP_011525649.1:p.Gln285ProfsTer?
NM_001352262.1:c.1153dup	NP_001339191.1:p.Gln385ProfsTer?
NM_001363663.1:c.1000dup	NP_001350592.1:p.Gln334ProfsTer?
XM_006723399.3:c.*136dup	XP_006723462.1:n.*136dup
XM_011527341.2:c.1003dup	XP_011525643.1:p.Gln335ProfsTer?
XM_011527342.2:c.982dup	XP_011525644.1:p.Gln328ProfsTer?
XM_017027321.1:c.850dup	XP_016882810.1:p.Gln284ProfsTer?
XM_017027322.2:c.*136dup	XP_016882811.1:n.*136dup
XM_024451729.1:c.982dup	XP_024307497.1:p.Gln328ProfsTer?
XM_024451730.1:c.979dup	XP_024307498.1:p.Gln327ProfsTer?
XR_001753764.1:n.1925dup
XR_001753765.1:n.1225dup
XR_002958363.1:n.2176dup
XR_002958364.1:n.1922dup
XR_002958365.1:n.1815dup
NM_001171937.2:c.1042dup	NP_001165408.1:p.Gln348ProfsTer?
NM_001352262.2:c.1153dup	NP_001339191.1:p.Gln385ProfsTer?
NM_025129.5:c.1150dup MANE Select	NP_079405.2:p.Gln384ProfsTer?
NR_033269.2:n.1251dup