Canonical Allele Identifier: CA2841204221

Gene: FUZ

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49807270_49807271del , CM000681.2:g.49807270_49807271del	GRCh38
NC_000019.9:g.50310527_50310528del , CM000681.1:g.50310527_50310528del	GRCh37
NC_000019.8:g.55002339_55002340del	NCBI36
NG_032843.1:g.11041_11042del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313777.9:c.1138_1139del MANE Select	ENSP00000313309.4:p.Leu380GlyfsTer?
ENST00000313777.8:c.1138_1139del	ENSP00000313309.4:p.Leu380GlyfsTer?
ENST00000377092.8:c.*878_*879del	ENSP00000366296.5:n.*878_*879del
ENST00000525130.5:c.*792_*793del	ENSP00000433492.1:n.*792_*793del
ENST00000525370.5:c.*795_*796del	ENSP00000431420.1:n.*795_*796del
ENST00000528094.5:c.1030_1031del	ENSP00000435177.1:p.Leu344GlyfsTer?
ENST00000529634.2:c.294_295del
ENST00000533418.5:c.988_989del	ENSP00000431731.1:p.Leu330GlyfsTer?
NM_001171937.1:c.1030_1031del	NP_001165408.1:p.Leu344GlyfsTer?
NM_025129.4:c.1138_1139del	NP_079405.2:p.Leu380GlyfsTer?
NR_033269.1:n.1257_1258del
XM_006723399.2:c.*124_*125del	XP_006723462.1:n.*124_*125del
XM_011527339.1:c.1141_1142del	XP_011525641.1:p.Leu381GlyfsTer?
XM_011527340.1:c.991_992del	XP_011525642.1:p.Leu331GlyfsTer?
XM_011527341.1:c.991_992del	XP_011525643.1:p.Leu331GlyfsTer?
XM_011527342.1:c.970_971del	XP_011525644.1:p.Leu324GlyfsTer?
XM_011527343.1:c.*124_*125del	XP_011525645.1:n.*124_*125del
XM_011527344.1:c.943_944del	XP_011525646.1:p.Leu315GlyfsTer?
XM_011527345.1:c.841_842del	XP_011525647.1:p.Leu281GlyfsTer?
XM_011527346.1:c.841_842del	XP_011525648.1:p.Leu281GlyfsTer?
XM_011527347.1:c.841_842del	XP_011525649.1:p.Leu281GlyfsTer?
NM_001352262.1:c.1141_1142del	NP_001339191.1:p.Leu381GlyfsTer?
NM_001363663.1:c.988_989del	NP_001350592.1:p.Leu330GlyfsTer?
XM_006723399.3:c.*124_*125del	XP_006723462.1:n.*124_*125del
XM_011527341.2:c.991_992del	XP_011525643.1:p.Leu331GlyfsTer?
XM_011527342.2:c.970_971del	XP_011525644.1:p.Leu324GlyfsTer?
XM_017027321.1:c.838_839del	XP_016882810.1:p.Leu280GlyfsTer?
XM_017027322.2:c.*124_*125del	XP_016882811.1:n.*124_*125del
XM_024451729.1:c.970_971del	XP_024307497.1:p.Leu324GlyfsTer?
XM_024451730.1:c.967_968del	XP_024307498.1:p.Leu323GlyfsTer?
XR_001753764.1:n.1913_1914del
XR_001753765.1:n.1213_1214del
XR_002958363.1:n.2164_2165del
XR_002958364.1:n.1910_1911del
XR_002958365.1:n.1803_1804del
NM_001171937.2:c.1030_1031del	NP_001165408.1:p.Leu344GlyfsTer?
NM_001352262.2:c.1141_1142del	NP_001339191.1:p.Leu381GlyfsTer?
NM_025129.5:c.1138_1139del MANE Select	NP_079405.2:p.Leu380GlyfsTer?
NR_033269.2:n.1239_1240del