Canonical Allele Identifier: CA2579037465

Gene: IFT56

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.139146884_139146888del , CM000669.2:g.139146884_139146888del	GRCh38
NC_000007.13:g.138831630_138831634del , CM000669.1:g.138831630_138831634del	GRCh37
NC_000007.12:g.138482170_138482174del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343187.8:c.307-261_307-257del	ENSP00000339135.4:n.307-261_307-257del
ENST00000430935.5:c.400-261_400-257del	ENSP00000410655.1:n.400-261_400-257del
ENST00000464848.5:c.400-261_400-257del MANE Select	ENSP00000419279.1:n.400-261_400-257del
ENST00000468866.1:n.365-261_365-257del
ENST00000474035.6:c.400-261_400-257del	ENSP00000443253.1:n.400-261_400-257del
ENST00000476296.1:c.400-100_400-96del	ENSP00000419639.1:n.400-100_400-96del
ENST00000478836.6:c.399+4579_399+4583del	ENSP00000419178.2:n.399+4579_399+4583del
ENST00000479132.5:n.411-100_411-96del
ENST00000481482.5:n.478-261_478-257del
ENST00000495038.5:c.399+4579_399+4583del	ENSP00000418788.1:n.399+4579_399+4583del
NM_001144920.2:c.400-261_400-257del	NP_001138392.1:n.400-261_400-257del
NM_001144923.2:c.307-261_307-257del	NP_001138395.1:n.307-261_307-257del
NM_001287512.1:c.399+4579_399+4583del	NP_001274441.1:n.399+4579_399+4583del
NM_001287513.1:c.85-261_85-257del	NP_001274442.1:n.85-261_85-257del
NM_024926.3:c.400-261_400-257del	NP_079202.2:n.400-261_400-257del
XM_005250608.3:c.-182-100_-182-96del	XP_005250665.1:n.-182-100_-182-96del
XM_006716135.2:c.399+4579_399+4583del	XP_006716198.1:n.399+4579_399+4583del
XM_011516584.1:c.400-261_400-257del	XP_011514886.1:n.400-261_400-257del
NM_001318333.1:c.-182-100_-182-96del	NP_001305262.1:n.-182-100_-182-96del
NM_001321740.1:c.400-261_400-257del	NP_001308669.1:n.400-261_400-257del
NM_001321741.1:c.399+4579_399+4583del	NP_001308670.1:n.399+4579_399+4583del
NM_001321742.1:c.400-261_400-257del	NP_001308671.1:n.400-261_400-257del
NM_024926.4:c.400-261_400-257del MANE Select	NP_079202.2:n.400-261_400-257del
NM_001144923.3:c.307-261_307-257del	NP_001138395.1:n.307-261_307-257del
NM_001287512.2:c.399+4579_399+4583del	NP_001274441.1:n.399+4579_399+4583del
NM_001287513.2:c.85-261_85-257del	NP_001274442.1:n.85-261_85-257del
NM_001318333.2:c.-182-100_-182-96del	NP_001305262.1:n.-182-100_-182-96del
NM_001321740.2:c.400-261_400-257del	NP_001308669.1:n.400-261_400-257del
NM_001321741.2:c.399+4579_399+4583del	NP_001308670.1:n.399+4579_399+4583del
NM_001144920.3:c.400-261_400-257del	NP_001138392.1:n.400-261_400-257del
NM_001321742.2:c.400-261_400-257del	NP_001308671.1:n.400-261_400-257del