Canonical Allele Identifier: CA2147731376

Gene: IFT43

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75985785_75985797delinsAGATGGAGGATTT , CM000676.2:g.75985785_75985797delinsAGATGGAGGATTT	GRCh38
NC_000014.8:g.76452128_76452140delinsAGATGGAGGATTT , CM000676.1:g.76452128_76452140delinsAGATGGAGGATTT	GRCh37
NC_000014.7:g.75521881_75521893delinsAGATGGAGGATTT	NCBI36
NG_011715.1:g.953_965delinsAAATCCTCCATCT , LRG_399:g.953_965delinsAAATCCTCCATCT
NG_031957.1:g.5033_5045delinsAGATGGAGGATTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314067.11:c.-2_11delinsAGATGGAGGATTT
ENST00000679083.1:c.-248_-236delinsAGATGGAGGATTT	ENSP00000504736.1:n.-248_-236delinsAGATGGAGGATTT
ENST00000238628.10:c.-2_11delinsAGATGGAGGATTT
ENST00000314067.10:c.-2_11delinsAGATGGAGGATTT
ENST00000542766.5:c.-2_11delinsAGATGGAGGATTT
ENST00000554026.5:n.6_18delinsAGATGGAGGATTT
ENST00000555305.5:n.6_18delinsAGATGGAGGATTT
ENST00000555370.5:c.-2_11delinsAGATGGAGGATTT
ENST00000555677.5:n.90-3100_90-3088delinsAGATGGAGGATTT
ENST00000556742.1:c.-2_11delinsAGATGGAGGATTT
NM_001102564.1:c.-2_11delinsAGATGGAGGATTT
NM_001255995.1:c.-2_11delinsAGATGGAGGATTT
NM_052873.2:c.-2_11delinsAGATGGAGGATTT
NR_045664.1:n.33_45delinsAGATGGAGGATTT
NR_045665.1:n.33_45delinsAGATGGAGGATTT
NM_001102564.2:c.-2_11delinsAGATGGAGGATTT
NM_001255995.2:c.-2_11delinsAGATGGAGGATTT
NM_052873.3:c.-2_11delinsAGATGGAGGATTT
NM_001102564.3:c.-2_11delinsAGATGGAGGATTT
NM_001255995.3:c.-2_11delinsAGATGGAGGATTT
NR_045664.2:n.23_35delinsAGATGGAGGATTT
NR_045665.2:n.23_35delinsAGATGGAGGATTT