Canonical Allele Identifier: CA2201718167

Gene: IFT140

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1510638_1510647delinsTTTCTCAGGC , CM000678.2:g.1510638_1510647delinsTTTCTCAGGC	GRCh38
NC_000016.9:g.1560639_1560648delinsTTTCTCAGGC , CM000678.1:g.1560639_1560648delinsTTTCTCAGGC	GRCh37
NC_000016.8:g.1500640_1500649delinsTTTCTCAGGC	NCBI36
NG_032783.1:g.106462_106471delinsGCCTGAGAAA
NG_050910.1:g.22295_22304delinsTTTCTCAGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.*297_*306delinsGCCTGAGAAA MANE Select	ENSP00000406012.2:n.*297_*306delinsGCCTGAGAAA
ENST00000361339.9:c.*297_*306delinsGCCTGAGAAA	ENSP00000354895.5:n.*297_*306delinsGCCTGAGAAA
ENST00000397417.6:c.*3124_*3133delinsGCCTGAGAAA	ENSP00000380562.2:n.*3124_*3133delinsGCCTGAGAAA
ENST00000426508.6:c.*297_*306delinsGCCTGAGAAA	ENSP00000406012.2:n.*297_*306delinsGCCTGAGAAA
ENST00000565298.5:n.4510_4519delinsGCCTGAGAAA
NM_014714.3:c.*297_*306delinsGCCTGAGAAA	NP_055529.2:n.*297_*306delinsGCCTGAGAAA
XM_006720989.2:c.*297_*306delinsGCCTGAGAAA	XP_006721052.1:n.*297_*306delinsGCCTGAGAAA
XM_006720990.2:c.*297_*306delinsGCCTGAGAAA	XP_006721053.1:n.*297_*306delinsGCCTGAGAAA
XM_006720991.2:c.*297_*306delinsGCCTGAGAAA	XP_006721054.1:n.*297_*306delinsGCCTGAGAAA
XM_006720992.2:c.*297_*306delinsGCCTGAGAAA	XP_006721055.1:n.*297_*306delinsGCCTGAGAAA
XM_011522766.1:c.*297_*306delinsGCCTGAGAAA	XP_011521068.1:n.*297_*306delinsGCCTGAGAAA
XM_011522767.1:c.*297_*306delinsGCCTGAGAAA	XP_011521069.1:n.*297_*306delinsGCCTGAGAAA
XM_006720990.3:c.*297_*306delinsGCCTGAGAAA	XP_006721053.1:n.*297_*306delinsGCCTGAGAAA
XM_006720991.3:c.*297_*306delinsGCCTGAGAAA	XP_006721054.1:n.*297_*306delinsGCCTGAGAAA
XM_006720992.3:c.*297_*306delinsGCCTGAGAAA	XP_006721055.1:n.*297_*306delinsGCCTGAGAAA
XM_011522766.3:c.*297_*306delinsGCCTGAGAAA	XP_011521068.1:n.*297_*306delinsGCCTGAGAAA
XM_011522767.2:c.*297_*306delinsGCCTGAGAAA	XP_011521069.1:n.*297_*306delinsGCCTGAGAAA
XM_017023910.1:c.*297_*306delinsGCCTGAGAAA	XP_016879399.1:n.*297_*306delinsGCCTGAGAAA
XM_017023911.1:c.*297_*306delinsGCCTGAGAAA	XP_016879400.1:n.*297_*306delinsGCCTGAGAAA
NM_014714.4:c.*297_*306delinsGCCTGAGAAA MANE Select	NP_055529.2:n.*297_*306delinsGCCTGAGAAA