Canonical Allele Identifier: CA2685151600

Gene: IFT56

Linked Data

• gnomAD v4: 7-139146873-AAAAAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.139146880_139146884del , CM000669.2:g.139146880_139146884del	GRCh38
NC_000007.13:g.138831626_138831630del , CM000669.1:g.138831626_138831630del	GRCh37
NC_000007.12:g.138482166_138482170del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343187.8:c.307-265_307-261del	ENSP00000339135.4:n.307-265_307-261del
ENST00000430935.5:c.400-265_400-261del	ENSP00000410655.1:n.400-265_400-261del
ENST00000464848.5:c.400-265_400-261del MANE Select	ENSP00000419279.1:n.400-265_400-261del
ENST00000468866.1:n.365-265_365-261del
ENST00000474035.6:c.400-265_400-261del	ENSP00000443253.1:n.400-265_400-261del
ENST00000476296.1:c.400-104_400-100del	ENSP00000419639.1:n.400-104_400-100del
ENST00000478836.6:c.399+4575_399+4579del	ENSP00000419178.2:n.399+4575_399+4579del
ENST00000479132.5:n.411-104_411-100del
ENST00000481482.5:n.478-265_478-261del
ENST00000495038.5:c.399+4575_399+4579del	ENSP00000418788.1:n.399+4575_399+4579del
NM_001144920.2:c.400-265_400-261del	NP_001138392.1:n.400-265_400-261del
NM_001144923.2:c.307-265_307-261del	NP_001138395.1:n.307-265_307-261del
NM_001287512.1:c.399+4575_399+4579del	NP_001274441.1:n.399+4575_399+4579del
NM_001287513.1:c.85-265_85-261del	NP_001274442.1:n.85-265_85-261del
NM_024926.3:c.400-265_400-261del	NP_079202.2:n.400-265_400-261del
XM_005250608.3:c.-182-104_-182-100del	XP_005250665.1:n.-182-104_-182-100del
XM_006716135.2:c.399+4575_399+4579del	XP_006716198.1:n.399+4575_399+4579del
XM_011516584.1:c.400-265_400-261del	XP_011514886.1:n.400-265_400-261del
NM_001318333.1:c.-182-104_-182-100del	NP_001305262.1:n.-182-104_-182-100del
NM_001321740.1:c.400-265_400-261del	NP_001308669.1:n.400-265_400-261del
NM_001321741.1:c.399+4575_399+4579del	NP_001308670.1:n.399+4575_399+4579del
NM_001321742.1:c.400-265_400-261del	NP_001308671.1:n.400-265_400-261del
NM_024926.4:c.400-265_400-261del MANE Select	NP_079202.2:n.400-265_400-261del
NM_001144923.3:c.307-265_307-261del	NP_001138395.1:n.307-265_307-261del
NM_001287512.2:c.399+4575_399+4579del	NP_001274441.1:n.399+4575_399+4579del
NM_001287513.2:c.85-265_85-261del	NP_001274442.1:n.85-265_85-261del
NM_001318333.2:c.-182-104_-182-100del	NP_001305262.1:n.-182-104_-182-100del
NM_001321740.2:c.400-265_400-261del	NP_001308669.1:n.400-265_400-261del
NM_001321741.2:c.399+4575_399+4579del	NP_001308670.1:n.399+4575_399+4579del
NM_001144920.3:c.400-265_400-261del	NP_001138392.1:n.400-265_400-261del
NM_001321742.2:c.400-265_400-261del	NP_001308671.1:n.400-265_400-261del