Canonical Allele Identifier: CA920127539

Gene: FUZ

Linked Data

• dbSNP Id: rs1568596769
• gnomAD v3: 19-49807576-CCT-C
• gnomAD v4: 19-49807576-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49807579_49807580del , CM000681.2:g.49807579_49807580del	GRCh38
NC_000019.9:g.50310836_50310837del , CM000681.1:g.50310836_50310837del	GRCh37
NC_000019.8:g.55002648_55002649del	NCBI36
NG_032843.1:g.10733_10734del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313777.9:c.1034-204_1034-203del MANE Select	ENSP00000313309.4:n.1034-204_1034-203del
ENST00000313777.8:c.1034-204_1034-203del	ENSP00000313309.4:n.1034-204_1034-203del
ENST00000377092.8:c.*774-204_*774-203del	ENSP00000366296.5:n.*774-204_*774-203del
ENST00000525130.5:c.*688-204_*688-203del	ENSP00000433492.1:n.*688-204_*688-203del
ENST00000525370.5:c.*691-204_*691-203del	ENSP00000431420.1:n.*691-204_*691-203del
ENST00000528094.5:c.926-204_926-203del	ENSP00000435177.1:n.926-204_926-203del
ENST00000529634.2:c.190-204_190-203del
ENST00000533418.5:c.884-204_884-203del	ENSP00000431731.1:n.884-204_884-203del
NM_001171937.1:c.926-204_926-203del	NP_001165408.1:n.926-204_926-203del
NM_025129.4:c.1034-204_1034-203del	NP_079405.2:n.1034-204_1034-203del
NR_033269.1:n.1153-204_1153-203del
XM_006723399.2:c.*20-204_*20-203del	XP_006723462.1:n.*20-204_*20-203del
XM_011527339.1:c.1037-204_1037-203del	XP_011525641.1:n.1037-204_1037-203del
XM_011527340.1:c.887-204_887-203del	XP_011525642.1:n.887-204_887-203del
XM_011527341.1:c.887-204_887-203del	XP_011525643.1:n.887-204_887-203del
XM_011527342.1:c.866-204_866-203del	XP_011525644.1:n.866-204_866-203del
XM_011527343.1:c.*20-204_*20-203del	XP_011525645.1:n.*20-204_*20-203del
XM_011527344.1:c.839-204_839-203del	XP_011525646.1:n.839-204_839-203del
XM_011527345.1:c.737-204_737-203del	XP_011525647.1:n.737-204_737-203del
XM_011527346.1:c.737-204_737-203del	XP_011525648.1:n.737-204_737-203del
XM_011527347.1:c.737-204_737-203del	XP_011525649.1:n.737-204_737-203del
XR_935862.1:n.1393_1394del
NM_001352262.1:c.1037-204_1037-203del	NP_001339191.1:n.1037-204_1037-203del
NM_001363663.1:c.884-204_884-203del	NP_001350592.1:n.884-204_884-203del
XM_006723399.3:c.*20-204_*20-203del	XP_006723462.1:n.*20-204_*20-203del
XM_011527341.2:c.887-204_887-203del	XP_011525643.1:n.887-204_887-203del
XM_011527342.2:c.866-204_866-203del	XP_011525644.1:n.866-204_866-203del
XM_017027320.1:c.*20-183_*20-182del	XP_016882809.1:n.*20-183_*20-182del
XM_017027321.1:c.734-204_734-203del	XP_016882810.1:n.734-204_734-203del
XM_017027322.2:c.*20-204_*20-203del	XP_016882811.1:n.*20-204_*20-203del
XM_024451729.1:c.866-204_866-203del	XP_024307497.1:n.866-204_866-203del
XM_024451730.1:c.863-204_863-203del	XP_024307498.1:n.863-204_863-203del
XR_001753764.1:n.1800_1801del
XR_001753765.1:n.1109-204_1109-203del
XR_002958363.1:n.2051_2052del
XR_002958364.1:n.1797_1798del
XR_002958365.1:n.1690_1691del
NM_001171937.2:c.926-204_926-203del	NP_001165408.1:n.926-204_926-203del
NM_001352262.2:c.1037-204_1037-203del	NP_001339191.1:n.1037-204_1037-203del
NM_025129.5:c.1034-204_1034-203del MANE Select	NP_079405.2:n.1034-204_1034-203del
NR_033269.2:n.1135-204_1135-203del