Canonical Allele Identifier: CA2201718364

Gene: IFT140

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1510991_1510992delinsTG , CM000678.2:g.1510991_1510992delinsTG	GRCh38
NC_000016.9:g.1560992_1560993delinsTG , CM000678.1:g.1560992_1560993delinsTG	GRCh37
NC_000016.8:g.1500993_1500994delinsTG	NCBI36
NG_032783.1:g.106117_106118delinsCA
NG_050910.1:g.22648_22649delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.4341_4342delinsCA MANE Select	ENSP00000406012.2:p.Ala1447=
ENST00000361339.9:c.1923_1924delinsCA	ENSP00000354895.5:p.Ala641=
ENST00000397417.6:c.*2779_*2780delinsCA	ENSP00000380562.2:n.*2779_*2780delinsCA
ENST00000426508.6:c.4341_4342delinsCA	ENSP00000406012.2:p.Ala1447=
ENST00000565298.5:n.4165_4166delinsCA
NM_014714.3:c.4341_4342delinsCA	NP_055529.2:p.Ala1447=
XM_006720989.2:c.4341_4342delinsCA	XP_006721052.1:p.Ala1447=
XM_006720990.2:c.4341_4342delinsCA	XP_006721053.1:p.Ala1447=
XM_006720991.2:c.4341_4342delinsCA	XP_006721054.1:p.Ala1447=
XM_006720992.2:c.1974_1975delinsCA	XP_006721055.1:p.Ala658=
XM_011522766.1:c.4095_4096delinsCA	XP_011521068.1:p.Ala1365=
XM_011522767.1:c.3366_3367delinsCA	XP_011521069.1:p.Ala1122=
XM_006720990.3:c.4341_4342delinsCA	XP_006721053.1:p.Ala1447=
XM_006720991.3:c.4341_4342delinsCA	XP_006721054.1:p.Ala1447=
XM_006720992.3:c.1974_1975delinsCA	XP_006721055.1:p.Ala658=
XM_011522766.3:c.4095_4096delinsCA	XP_011521068.1:p.Ala1365=
XM_011522767.2:c.3366_3367delinsCA	XP_011521069.1:p.Ala1122=
XM_017023910.1:c.4341_4342delinsCA	XP_016879399.1:p.Ala1447=
XM_017023911.1:c.2526_2527delinsCA	XP_016879400.1:p.Ala842=
NM_014714.4:c.4341_4342delinsCA MANE Select	NP_055529.2:p.Ala1447=