Canonical Allele Identifier: CA2685151574

Gene: IFT56

Linked Data

• gnomAD v4: 7-139146834-GTAGACAGAAAAAGAAAAGGAAAGGGAGAAAATATAAAGAAAAAGAAAAGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.139146837_139146886del , CM000669.2:g.139146837_139146886del	GRCh38
NC_000007.13:g.138831583_138831632del , CM000669.1:g.138831583_138831632del	GRCh37
NC_000007.12:g.138482123_138482172del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343187.8:c.307-308_307-259del	ENSP00000339135.4:n.307-308_307-259del
ENST00000430935.5:c.400-308_400-259del	ENSP00000410655.1:n.400-308_400-259del
ENST00000464848.5:c.400-308_400-259del MANE Select	ENSP00000419279.1:n.400-308_400-259del
ENST00000468866.1:n.365-308_365-259del
ENST00000474035.6:c.400-308_400-259del	ENSP00000443253.1:n.400-308_400-259del
ENST00000476296.1:c.400-147_400-98del	ENSP00000419639.1:n.400-147_400-98del
ENST00000478836.6:c.399+4532_399+4581del	ENSP00000419178.2:n.399+4532_399+4581del
ENST00000479132.5:n.411-147_411-98del
ENST00000481482.5:n.478-308_478-259del
ENST00000495038.5:c.399+4532_399+4581del	ENSP00000418788.1:n.399+4532_399+4581del
NM_001144920.2:c.400-308_400-259del	NP_001138392.1:n.400-308_400-259del
NM_001144923.2:c.307-308_307-259del	NP_001138395.1:n.307-308_307-259del
NM_001287512.1:c.399+4532_399+4581del	NP_001274441.1:n.399+4532_399+4581del
NM_001287513.1:c.85-308_85-259del	NP_001274442.1:n.85-308_85-259del
NM_024926.3:c.400-308_400-259del	NP_079202.2:n.400-308_400-259del
XM_005250608.3:c.-182-147_-182-98del	XP_005250665.1:n.-182-147_-182-98del
XM_006716135.2:c.399+4532_399+4581del	XP_006716198.1:n.399+4532_399+4581del
XM_011516584.1:c.400-308_400-259del	XP_011514886.1:n.400-308_400-259del
NM_001318333.1:c.-182-147_-182-98del	NP_001305262.1:n.-182-147_-182-98del
NM_001321740.1:c.400-308_400-259del	NP_001308669.1:n.400-308_400-259del
NM_001321741.1:c.399+4532_399+4581del	NP_001308670.1:n.399+4532_399+4581del
NM_001321742.1:c.400-308_400-259del	NP_001308671.1:n.400-308_400-259del
NM_024926.4:c.400-308_400-259del MANE Select	NP_079202.2:n.400-308_400-259del
NM_001144923.3:c.307-308_307-259del	NP_001138395.1:n.307-308_307-259del
NM_001287512.2:c.399+4532_399+4581del	NP_001274441.1:n.399+4532_399+4581del
NM_001287513.2:c.85-308_85-259del	NP_001274442.1:n.85-308_85-259del
NM_001318333.2:c.-182-147_-182-98del	NP_001305262.1:n.-182-147_-182-98del
NM_001321740.2:c.400-308_400-259del	NP_001308669.1:n.400-308_400-259del
NM_001321741.2:c.399+4532_399+4581del	NP_001308670.1:n.399+4532_399+4581del
NM_001144920.3:c.400-308_400-259del	NP_001138392.1:n.400-308_400-259del
NM_001321742.2:c.400-308_400-259del	NP_001308671.1:n.400-308_400-259del