Canonical Allele Identifier: CA1746970289

Gene: IFT56

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.139157090_139157101delinsTAAAACCATGAA , CM000669.2:g.139157090_139157101delinsTAAAACCATGAA	GRCh38
NC_000007.13:g.138841836_138841847delinsTAAAACCATGAA , CM000669.1:g.138841836_138841847delinsTAAAACCATGAA	GRCh37
NC_000007.12:g.138492376_138492387delinsTAAAACCATGAA	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000343187.8:c.625-3858_625-3847delinsTAAAACCATGAA	ENSP00000339135.4:n.625-3858_625-3847deli...
ENST00000430935.5:c.718-3858_718-3847delinsTAAAACCATGAA	ENSP00000410655.1:n.718-3858_718-3847deli...
ENST00000464848.5:c.718-3858_718-3847delinsTAAAACCATGAA MANE Select	ENSP00000419279.1:n.718-3858_718-3847deli...
ENST00000474035.6:c.718-3858_718-3847delinsTAAAACCATGAA	ENSP00000443253.1:n.718-3858_718-3847deli...
ENST00000476296.1:c.*471-3858_*471-3847delinsTAAAACCATGAA	ENSP00000419639.1:n.*471-3858_*471-3847de...
ENST00000478836.6:c.400-3858_400-3847delinsTAAAACCATGAA	ENSP00000419178.2:n.400-3858_400-3847deli...
ENST00000481482.5:n.796-3858_796-3847delinsTAAAACCATGAA
ENST00000495038.5:c.400-8042_400-8031delinsTAAAACCATGAA	ENSP00000418788.1:n.400-8042_400-8031deli...
NM_001144920.2:c.718-3858_718-3847delinsTAAAACCATGAA	NP_001138392.1:n.718-3858_718-3847delinsT...
NM_001144923.2:c.625-3858_625-3847delinsTAAAACCATGAA	NP_001138395.1:n.625-3858_625-3847delinsT...
NM_001287512.1:c.400-8042_400-8031delinsTAAAACCATGAA	NP_001274441.1:n.400-8042_400-8031delinsT...
NM_001287513.1:c.403-3858_403-3847delinsTAAAACCATGAA	NP_001274442.1:n.403-3858_403-3847delinsT...
NM_024926.3:c.718-3858_718-3847delinsTAAAACCATGAA	NP_079202.2:n.718-3858_718-3847delinsTAAA...
XM_005250608.3:c.298-3858_298-3847delinsTAAAACCATGAA	XP_005250665.1:n.298-3858_298-3847delinsT...
XM_006716135.2:c.400-3858_400-3847delinsTAAAACCATGAA	XP_006716198.1:n.400-3858_400-3847delinsT...
XM_011516584.1:c.718-3858_718-3847delinsTAAAACCATGAA	XP_011514886.1:n.718-3858_718-3847delinsT...
NM_001318333.1:c.298-3858_298-3847delinsTAAAACCATGAA	NP_001305262.1:n.298-3858_298-3847delinsT...
NM_001321740.1:c.718-3858_718-3847delinsTAAAACCATGAA	NP_001308669.1:n.718-3858_718-3847delinsT...
NM_001321741.1:c.400-3858_400-3847delinsTAAAACCATGAA	NP_001308670.1:n.400-3858_400-3847delinsT...
NM_001321742.1:c.718-3858_718-3847delinsTAAAACCATGAA	NP_001308671.1:n.718-3858_718-3847delinsT...
NM_024926.4:c.718-3858_718-3847delinsTAAAACCATGAA MANE Select	NP_079202.2:n.718-3858_718-3847delinsTAAA...
NM_001144923.3:c.625-3858_625-3847delinsTAAAACCATGAA	NP_001138395.1:n.625-3858_625-3847delinsT...
NM_001287512.2:c.400-8042_400-8031delinsTAAAACCATGAA	NP_001274441.1:n.400-8042_400-8031delinsT...
NM_001287513.2:c.403-3858_403-3847delinsTAAAACCATGAA	NP_001274442.1:n.403-3858_403-3847delinsT...
NM_001318333.2:c.298-3858_298-3847delinsTAAAACCATGAA	NP_001305262.1:n.298-3858_298-3847delinsT...
NM_001321740.2:c.718-3858_718-3847delinsTAAAACCATGAA	NP_001308669.1:n.718-3858_718-3847delinsT...
NM_001321741.2:c.400-3858_400-3847delinsTAAAACCATGAA	NP_001308670.1:n.400-3858_400-3847delinsT...
NM_001144920.3:c.718-3858_718-3847delinsTAAAACCATGAA	NP_001138392.1:n.718-3858_718-3847delinsT...
NM_001321742.2:c.718-3858_718-3847delinsTAAAACCATGAA	NP_001308671.1:n.718-3858_718-3847delinsT...