Canonical Allele Identifier: CA2340592972

Gene: FUZ

Linked Data

• dbSNP Id: rs2073438383

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49807357_49807361del , CM000681.2:g.49807357_49807361del	GRCh38
NC_000019.9:g.50310614_50310618del , CM000681.1:g.50310614_50310618del	GRCh37
NC_000019.8:g.55002426_55002430del	NCBI36
NG_032843.1:g.10953_10957del

Transcript Alleles

HGVS	Amino-acid change
ENST00000313777.9:c.1050_1054del MANE Select	ENSP00000313309.4:p.Glu350AspfsTer4
ENST00000313777.8:c.1050_1054del	ENSP00000313309.4:p.Glu350AspfsTer4
ENST00000377092.8:c.*790_*794del	ENSP00000366296.5:n.*790_*794del
ENST00000525130.5:c.*704_*708del	ENSP00000433492.1:n.*704_*708del
ENST00000525370.5:c.*707_*711del	ENSP00000431420.1:n.*707_*711del
ENST00000528094.5:c.942_946del	ENSP00000435177.1:p.Glu314AspfsTer4
ENST00000529634.2:c.206_210del
ENST00000533418.5:c.900_904del	ENSP00000431731.1:p.Glu300AspfsTer4
NM_001171937.1:c.942_946del	NP_001165408.1:p.Glu314AspfsTer4
NM_025129.4:c.1050_1054del	NP_079405.2:p.Glu350AspfsTer4
NR_033269.1:n.1169_1173del
XM_006723399.2:c.*36_*40del	XP_006723462.1:n.*36_*40del
XM_011527339.1:c.1053_1057del	XP_011525641.1:p.Glu351AspfsTer4
XM_011527340.1:c.903_907del	XP_011525642.1:p.Glu301AspfsTer4
XM_011527341.1:c.903_907del	XP_011525643.1:p.Glu301AspfsTer4
XM_011527342.1:c.882_886del	XP_011525644.1:p.Glu294AspfsTer4
XM_011527343.1:c.*36_*40del	XP_011525645.1:n.*36_*40del
XM_011527344.1:c.855_859del	XP_011525646.1:p.Glu285AspfsTer4
XM_011527345.1:c.753_757del	XP_011525647.1:p.Glu251AspfsTer4
XM_011527346.1:c.753_757del	XP_011525648.1:p.Glu251AspfsTer4
XM_011527347.1:c.753_757del	XP_011525649.1:p.Glu251AspfsTer4
XR_935862.1:n.1418_1422del
NM_001352262.1:c.1053_1057del	NP_001339191.1:p.Glu351AspfsTer4
NM_001363663.1:c.900_904del	NP_001350592.1:p.Glu300AspfsTer4
XM_006723399.3:c.*36_*40del	XP_006723462.1:n.*36_*40del
XM_011527341.2:c.903_907del	XP_011525643.1:p.Glu301AspfsTer4
XM_011527342.2:c.882_886del	XP_011525644.1:p.Glu294AspfsTer4
XM_017027321.1:c.750_754del	XP_016882810.1:p.Glu250AspfsTer4
XM_017027322.2:c.*36_*40del	XP_016882811.1:n.*36_*40del
XM_024451729.1:c.882_886del	XP_024307497.1:p.Glu294AspfsTer4
XM_024451730.1:c.879_883del	XP_024307498.1:p.Glu293AspfsTer4
XR_001753764.1:n.1825_1829del
XR_001753765.1:n.1125_1129del
XR_002958363.1:n.2076_2080del
XR_002958364.1:n.1822_1826del
XR_002958365.1:n.1715_1719del
NM_001171937.2:c.942_946del	NP_001165408.1:p.Glu314AspfsTer4
NM_001352262.2:c.1053_1057del	NP_001339191.1:p.Glu351AspfsTer4
NM_025129.5:c.1050_1054del MANE Select	NP_079405.2:p.Glu350AspfsTer4
NR_033269.2:n.1151_1155del