Canonical Allele Identifier: CA2736052504

Gene: FUZ

Linked Data

• dbSNP Id: rs2123783413

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000313777.9:c.1059dup MANE Select	ENSP00000313309.4:p.Asp354ArgfsTer2
ENST00000313777.8:c.1059dup	ENSP00000313309.4:p.Asp354ArgfsTer2
ENST00000377092.8:c.*799dup	ENSP00000366296.5:n.*799dup
ENST00000525130.5:c.*713dup	ENSP00000433492.1:n.*713dup
ENST00000525370.5:c.*716dup	ENSP00000431420.1:n.*716dup
ENST00000528094.5:c.951dup	ENSP00000435177.1:p.Asp318ArgfsTer2
ENST00000529634.2:c.215dup
ENST00000533418.5:c.909dup	ENSP00000431731.1:p.Asp304ArgfsTer2
NM_001171937.1:c.951dup	NP_001165408.1:p.Asp318ArgfsTer2
NM_025129.4:c.1059dup	NP_079405.2:p.Asp354ArgfsTer2
NR_033269.1:n.1178dup
XM_006723399.2:c.*45dup	XP_006723462.1:n.*45dup
XM_011527339.1:c.1062dup	XP_011525641.1:p.Asp355ArgfsTer2
XM_011527340.1:c.912dup	XP_011525642.1:p.Asp305ArgfsTer2
XM_011527341.1:c.912dup	XP_011525643.1:p.Asp305ArgfsTer2
XM_011527342.1:c.891dup	XP_011525644.1:p.Asp298ArgfsTer2
XM_011527343.1:c.*45dup	XP_011525645.1:n.*45dup
XM_011527344.1:c.864dup	XP_011525646.1:p.Asp289ArgfsTer2
XM_011527345.1:c.762dup	XP_011525647.1:p.Asp255ArgfsTer2
XM_011527346.1:c.762dup	XP_011525648.1:p.Asp255ArgfsTer2
XM_011527347.1:c.762dup	XP_011525649.1:p.Asp255ArgfsTer2
XR_935862.1:n.1427dup
NM_001352262.1:c.1062dup	NP_001339191.1:p.Asp355ArgfsTer2
NM_001363663.1:c.909dup	NP_001350592.1:p.Asp304ArgfsTer2
XM_006723399.3:c.*45dup	XP_006723462.1:n.*45dup
XM_011527341.2:c.912dup	XP_011525643.1:p.Asp305ArgfsTer2
XM_011527342.2:c.891dup	XP_011525644.1:p.Asp298ArgfsTer2
XM_017027321.1:c.759dup	XP_016882810.1:p.Asp254ArgfsTer2
XM_017027322.2:c.*45dup	XP_016882811.1:n.*45dup
XM_024451729.1:c.891dup	XP_024307497.1:p.Asp298ArgfsTer2
XM_024451730.1:c.888dup	XP_024307498.1:p.Asp297ArgfsTer2
XR_001753764.1:n.1834dup
XR_001753765.1:n.1134dup
XR_002958363.1:n.2085dup
XR_002958364.1:n.1831dup
XR_002958365.1:n.1724dup
NM_001171937.2:c.951dup	NP_001165408.1:p.Asp318ArgfsTer2
NM_001352262.2:c.1062dup	NP_001339191.1:p.Asp355ArgfsTer2
NM_025129.5:c.1059dup MANE Select	NP_079405.2:p.Asp354ArgfsTer2
NR_033269.2:n.1160dup