Canonical Allele Identifier: CA2499222740

Gene: IFT43

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.76022353_76022354delinsAT , CM000676.2:g.76022353_76022354delinsAT	GRCh38
NC_000014.8:g.76488696_76488697delinsAT , CM000676.1:g.76488696_76488697delinsAT	GRCh37
NC_000014.7:g.75558449_75558450delinsAT	NCBI36
NG_031957.1:g.41601_41602delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314067.11:c.174_175delinsAT MANE Select	ENSP00000324177.6:p.Cys58Ter
ENST00000679083.1:c.111_112delinsAT	ENSP00000504736.1:p.Cys37Ter
ENST00000238628.10:c.174_175delinsAT	ENSP00000238628.6:p.Cys58Ter
ENST00000314067.10:c.174_175delinsAT	ENSP00000324177.6:p.Cys58Ter
ENST00000542766.5:c.174_175delinsAT	ENSP00000440064.1:p.Cys58Ter
ENST00000553338.1:n.635_636delinsAT
ENST00000553438.1:n.29_30delinsAT
ENST00000554026.5:n.181_182delinsAT
ENST00000555305.5:n.181_182delinsAT
ENST00000555370.5:c.*232_*233delinsAT	ENSP00000452051.1:n.*232_*233delinsAT
ENST00000555677.5:n.209_210delinsAT
ENST00000556742.1:c.174_175delinsAT	ENSP00000451096.1:p.Cys58Ter
NM_001102564.1:c.174_175delinsAT	NP_001096034.1:p.Cys58Ter
NM_001255995.1:c.174_175delinsAT	NP_001242924.1:p.Cys58Ter
NM_052873.2:c.174_175delinsAT	NP_443105.2:p.Cys58Ter
NR_045664.1:n.208_209delinsAT
NR_045665.1:n.208_209delinsAT
NM_001102564.2:c.174_175delinsAT	NP_001096034.1:p.Cys58Ter
NM_001255995.2:c.174_175delinsAT	NP_001242924.1:p.Cys58Ter
NM_052873.3:c.174_175delinsAT	NP_443105.2:p.Cys58Ter
NM_001102564.3:c.174_175delinsAT MANE Select	NP_001096034.1:p.Cys58Ter
NM_001255995.3:c.174_175delinsAT	NP_001242924.1:p.Cys58Ter
NR_045664.2:n.198_199delinsAT
NR_045665.2:n.198_199delinsAT