Canonical Allele Identifier: CA2805557692

Gene: IFT140

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1510958_1510959insAGA , CM000678.2:g.1510958_1510959insAGA	GRCh38
NC_000016.9:g.1560959_1560960insAGA , CM000678.1:g.1560959_1560960insAGA	GRCh37
NC_000016.8:g.1500960_1500961insAGA	NCBI36
NG_032783.1:g.106150_106151insTCT
NG_050910.1:g.22615_22616insAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.4374_4375insTCT MANE Select	ENSP00000406012.2:p.Ala1458_Asp1459insSer
ENST00000361339.9:c.1956_1957insTCT	ENSP00000354895.5:p.Ala652_Asp653insSer
ENST00000397417.6:c.*2812_*2813insTCT	ENSP00000380562.2:n.*2812_*2813insTCT
ENST00000426508.6:c.4374_4375insTCT	ENSP00000406012.2:p.Ala1458_Asp1459insSer
ENST00000565298.5:n.4198_4199insTCT
NM_014714.3:c.4374_4375insTCT	NP_055529.2:p.Ala1458_Asp1459insSer
XM_006720989.2:c.4374_4375insTCT	XP_006721052.1:p.Ala1458_Asp1459insSer
XM_006720990.2:c.4374_4375insTCT	XP_006721053.1:p.Ala1458_Asp1459insSer
XM_006720991.2:c.4374_4375insTCT	XP_006721054.1:p.Ala1458_Asp1459insSer
XM_006720992.2:c.2007_2008insTCT	XP_006721055.1:p.Ala669_Asp670insSer
XM_011522766.1:c.4128_4129insTCT	XP_011521068.1:p.Ala1376_Asp1377insSer
XM_011522767.1:c.3399_3400insTCT	XP_011521069.1:p.Ala1133_Asp1134insSer
XM_006720990.3:c.4374_4375insTCT	XP_006721053.1:p.Ala1458_Asp1459insSer
XM_006720991.3:c.4374_4375insTCT	XP_006721054.1:p.Ala1458_Asp1459insSer
XM_006720992.3:c.2007_2008insTCT	XP_006721055.1:p.Ala669_Asp670insSer
XM_011522766.3:c.4128_4129insTCT	XP_011521068.1:p.Ala1376_Asp1377insSer
XM_011522767.2:c.3399_3400insTCT	XP_011521069.1:p.Ala1133_Asp1134insSer
XM_017023910.1:c.4374_4375insTCT	XP_016879399.1:p.Ala1458_Asp1459insSer
XM_017023911.1:c.2559_2560insTCT	XP_016879400.1:p.Ala853_Asp854insSer
NM_014714.4:c.4374_4375insTCT MANE Select	NP_055529.2:p.Ala1458_Asp1459insSer