Canonical Allele Identifier: CA2340592971

Gene: FUZ

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49807353_49807358delinsGTCTTC , CM000681.2:g.49807353_49807358delinsGTCTTC	GRCh38
NC_000019.9:g.50310610_50310615delinsGTCTTC , CM000681.1:g.50310610_50310615delinsGTCTTC	GRCh37
NC_000019.8:g.55002422_55002427delinsGTCTTC	NCBI36
NG_032843.1:g.10953_10958delinsGAAGAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000313777.9:c.1050_1055delinsGAAGAC MANE Select	ENSP00000313309.4:p.Glu350=
ENST00000313777.8:c.1050_1055delinsGAAGAC	ENSP00000313309.4:p.Glu350=
ENST00000377092.8:c.*790_*795delinsGAAGAC	ENSP00000366296.5:n.*790_*795delinsGAAGAC
ENST00000525130.5:c.*704_*709delinsGAAGAC	ENSP00000433492.1:n.*704_*709delinsGAAGAC
ENST00000525370.5:c.*707_*712delinsGAAGAC	ENSP00000431420.1:n.*707_*712delinsGAAGAC
ENST00000528094.5:c.942_947delinsGAAGAC	ENSP00000435177.1:p.Glu314=
ENST00000529634.2:c.206_211delinsGAAGAC
ENST00000533418.5:c.900_905delinsGAAGAC	ENSP00000431731.1:p.Glu300=
NM_001171937.1:c.942_947delinsGAAGAC	NP_001165408.1:p.Glu314=
NM_025129.4:c.1050_1055delinsGAAGAC	NP_079405.2:p.Glu350=
NR_033269.1:n.1169_1174delinsGAAGAC
XM_006723399.2:c.*36_*41delinsGAAGAC	XP_006723462.1:n.*36_*41delinsGAAGAC
XM_011527339.1:c.1053_1058delinsGAAGAC	XP_011525641.1:p.Glu351=
XM_011527340.1:c.903_908delinsGAAGAC	XP_011525642.1:p.Glu301=
XM_011527341.1:c.903_908delinsGAAGAC	XP_011525643.1:p.Glu301=
XM_011527342.1:c.882_887delinsGAAGAC	XP_011525644.1:p.Glu294=
XM_011527343.1:c.*36_*41delinsGAAGAC	XP_011525645.1:n.*36_*41delinsGAAGAC
XM_011527344.1:c.855_860delinsGAAGAC	XP_011525646.1:p.Glu285=
XM_011527345.1:c.753_758delinsGAAGAC	XP_011525647.1:p.Glu251=
XM_011527346.1:c.753_758delinsGAAGAC	XP_011525648.1:p.Glu251=
XM_011527347.1:c.753_758delinsGAAGAC	XP_011525649.1:p.Glu251=
XR_935862.1:n.1418_1423delinsGAAGAC
NM_001352262.1:c.1053_1058delinsGAAGAC	NP_001339191.1:p.Glu351=
NM_001363663.1:c.900_905delinsGAAGAC	NP_001350592.1:p.Glu300=
XM_006723399.3:c.*36_*41delinsGAAGAC	XP_006723462.1:n.*36_*41delinsGAAGAC
XM_011527341.2:c.903_908delinsGAAGAC	XP_011525643.1:p.Glu301=
XM_011527342.2:c.882_887delinsGAAGAC	XP_011525644.1:p.Glu294=
XM_017027321.1:c.750_755delinsGAAGAC	XP_016882810.1:p.Glu250=
XM_017027322.2:c.*36_*41delinsGAAGAC	XP_016882811.1:n.*36_*41delinsGAAGAC
XM_024451729.1:c.882_887delinsGAAGAC	XP_024307497.1:p.Glu294=
XM_024451730.1:c.879_884delinsGAAGAC	XP_024307498.1:p.Glu293=
XR_001753764.1:n.1825_1830delinsGAAGAC
XR_001753765.1:n.1125_1130delinsGAAGAC
XR_002958363.1:n.2076_2081delinsGAAGAC
XR_002958364.1:n.1822_1827delinsGAAGAC
XR_002958365.1:n.1715_1720delinsGAAGAC
NM_001171937.2:c.942_947delinsGAAGAC	NP_001165408.1:p.Glu314=
NM_001352262.2:c.1053_1058delinsGAAGAC	NP_001339191.1:p.Glu351=
NM_025129.5:c.1050_1055delinsGAAGAC MANE Select	NP_079405.2:p.Glu350=
NR_033269.2:n.1151_1156delinsGAAGAC