Canonical Allele Identifier: CA1746966217

Gene: IFT56

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.139146868_139146874delinsTAAAGAA , CM000669.2:g.139146868_139146874delinsTAAAGAA	GRCh38
NC_000007.13:g.138831614_138831620delinsTAAAGAA , CM000669.1:g.138831614_138831620delinsTAAAGAA	GRCh37
NC_000007.12:g.138482154_138482160delinsTAAAGAA	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000343187.8:c.307-277_307-271delinsTAAAGAA	ENSP00000339135.4:n.307-277_307-271delinsTAAAGAA
ENST00000430935.5:c.400-277_400-271delinsTAAAGAA	ENSP00000410655.1:n.400-277_400-271delinsTAAAGAA
ENST00000464848.5:c.400-277_400-271delinsTAAAGAA MANE Select	ENSP00000419279.1:n.400-277_400-271delinsTAAAGAA
ENST00000468866.1:n.365-277_365-271delinsTAAAGAA
ENST00000474035.6:c.400-277_400-271delinsTAAAGAA	ENSP00000443253.1:n.400-277_400-271delinsTAAAGAA
ENST00000476296.1:c.400-116_400-110delinsTAAAGAA	ENSP00000419639.1:n.400-116_400-110delinsTAAAGAA
ENST00000478836.6:c.399+4563_399+4569delinsTAAAGAA	ENSP00000419178.2:n.399+4563_399+4569delinsTAAAGAA
ENST00000479132.5:n.411-116_411-110delinsTAAAGAA
ENST00000481482.5:n.478-277_478-271delinsTAAAGAA
ENST00000495038.5:c.399+4563_399+4569delinsTAAAGAA	ENSP00000418788.1:n.399+4563_399+4569delinsTAAAGAA
NM_001144920.2:c.400-277_400-271delinsTAAAGAA	NP_001138392.1:n.400-277_400-271delinsTAAAGAA
NM_001144923.2:c.307-277_307-271delinsTAAAGAA	NP_001138395.1:n.307-277_307-271delinsTAAAGAA
NM_001287512.1:c.399+4563_399+4569delinsTAAAGAA	NP_001274441.1:n.399+4563_399+4569delinsTAAAGAA
NM_001287513.1:c.85-277_85-271delinsTAAAGAA	NP_001274442.1:n.85-277_85-271delinsTAAAGAA
NM_024926.3:c.400-277_400-271delinsTAAAGAA	NP_079202.2:n.400-277_400-271delinsTAAAGAA
XM_005250608.3:c.-182-116_-182-110delinsTAAAGAA	XP_005250665.1:n.-182-116_-182-110delinsTAAAGAA
XM_006716135.2:c.399+4563_399+4569delinsTAAAGAA	XP_006716198.1:n.399+4563_399+4569delinsTAAAGAA
XM_011516584.1:c.400-277_400-271delinsTAAAGAA	XP_011514886.1:n.400-277_400-271delinsTAAAGAA
NM_001318333.1:c.-182-116_-182-110delinsTAAAGAA	NP_001305262.1:n.-182-116_-182-110delinsTAAAGAA
NM_001321740.1:c.400-277_400-271delinsTAAAGAA	NP_001308669.1:n.400-277_400-271delinsTAAAGAA
NM_001321741.1:c.399+4563_399+4569delinsTAAAGAA	NP_001308670.1:n.399+4563_399+4569delinsTAAAGAA
NM_001321742.1:c.400-277_400-271delinsTAAAGAA	NP_001308671.1:n.400-277_400-271delinsTAAAGAA
NM_024926.4:c.400-277_400-271delinsTAAAGAA MANE Select	NP_079202.2:n.400-277_400-271delinsTAAAGAA
NM_001144923.3:c.307-277_307-271delinsTAAAGAA	NP_001138395.1:n.307-277_307-271delinsTAAAGAA
NM_001287512.2:c.399+4563_399+4569delinsTAAAGAA	NP_001274441.1:n.399+4563_399+4569delinsTAAAGAA
NM_001287513.2:c.85-277_85-271delinsTAAAGAA	NP_001274442.1:n.85-277_85-271delinsTAAAGAA
NM_001318333.2:c.-182-116_-182-110delinsTAAAGAA	NP_001305262.1:n.-182-116_-182-110delinsTAAAGAA
NM_001321740.2:c.400-277_400-271delinsTAAAGAA	NP_001308669.1:n.400-277_400-271delinsTAAAGAA
NM_001321741.2:c.399+4563_399+4569delinsTAAAGAA	NP_001308670.1:n.399+4563_399+4569delinsTAAAGAA
NM_001144920.3:c.400-277_400-271delinsTAAAGAA	NP_001138392.1:n.400-277_400-271delinsTAAAGAA
NM_001321742.2:c.400-277_400-271delinsTAAAGAA	NP_001308671.1:n.400-277_400-271delinsTAAAGAA