Canonical Allele Identifier: CA2201718334

Gene: IFT140

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1510949_1510952delinsGGTC , CM000678.2:g.1510949_1510952delinsGGTC	GRCh38
NC_000016.9:g.1560950_1560953delinsGGTC , CM000678.1:g.1560950_1560953delinsGGTC	GRCh37
NC_000016.8:g.1500951_1500954delinsGGTC	NCBI36
NG_032783.1:g.106157_106160delinsGACC
NG_050910.1:g.22606_22609delinsGGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.4381_4384delinsGACC MANE Select	ENSP00000406012.2:p.Asp1461=
ENST00000361339.9:c.1963_1966delinsGACC	ENSP00000354895.5:p.Asp655=
ENST00000397417.6:c.*2819_*2822delinsGACC	ENSP00000380562.2:n.*2819_*2822delinsGACC
ENST00000426508.6:c.4381_4384delinsGACC	ENSP00000406012.2:p.Asp1461=
ENST00000565298.5:n.4205_4208delinsGACC
NM_014714.3:c.4381_4384delinsGACC	NP_055529.2:p.Asp1461=
XM_006720989.2:c.4381_4384delinsGACC	XP_006721052.1:p.Asp1461=
XM_006720990.2:c.4381_4384delinsGACC	XP_006721053.1:p.Asp1461=
XM_006720991.2:c.4381_4384delinsGACC	XP_006721054.1:p.Asp1461=
XM_006720992.2:c.2014_2017delinsGACC	XP_006721055.1:p.Asp672=
XM_011522766.1:c.4135_4138delinsGACC	XP_011521068.1:p.Asp1379=
XM_011522767.1:c.3406_3409delinsGACC	XP_011521069.1:p.Asp1136=
XM_006720990.3:c.4381_4384delinsGACC	XP_006721053.1:p.Asp1461=
XM_006720991.3:c.4381_4384delinsGACC	XP_006721054.1:p.Asp1461=
XM_006720992.3:c.2014_2017delinsGACC	XP_006721055.1:p.Asp672=
XM_011522766.3:c.4135_4138delinsGACC	XP_011521068.1:p.Asp1379=
XM_011522767.2:c.3406_3409delinsGACC	XP_011521069.1:p.Asp1136=
XM_017023910.1:c.4381_4384delinsGACC	XP_016879399.1:p.Asp1461=
XM_017023911.1:c.2566_2569delinsGACC	XP_016879400.1:p.Asp856=
NM_014714.4:c.4381_4384delinsGACC MANE Select	NP_055529.2:p.Asp1461=