Canonical Allele Identifier: CA2580090659

Gene: IFT140

Linked Data

• ClinVar Variation Id: 1973713
• ClinVar RCV Id: RCV002736210

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1525973delinsTT , CM000678.2:g.1525973delinsTT	GRCh38
NC_000016.9:g.1575974delinsTT , CM000678.1:g.1575974delinsTT	GRCh37
NC_000016.8:g.1515975delinsTT	NCBI36
NG_032783.1:g.91136delinsAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000426508.7:c.2682delinsAA MANE Select	ENSP00000406012.2:p.His894GlnfsTer?
ENST00000361339.9:c.264delinsAA	ENSP00000354895.5:p.His88GlnfsTer?
ENST00000397417.6:c.*1120delinsAA	ENSP00000380562.2:n.*1120delinsAA
ENST00000426508.6:c.2682delinsAA	ENSP00000406012.2:p.His894GlnfsTer?
ENST00000565298.5:n.1911delinsAA
ENST00000566818.1:n.397delinsAA
NM_014714.3:c.2682delinsAA	NP_055529.2:p.His894GlnfsTer?
XM_006720989.2:c.2682delinsAA	XP_006721052.1:p.His894GlnfsTer?
XM_006720990.2:c.2682delinsAA	XP_006721053.1:p.His894GlnfsTer?
XM_006720991.2:c.2682delinsAA	XP_006721054.1:p.His894GlnfsTer?
XM_006720992.2:c.315delinsAA	XP_006721055.1:p.His105GlnfsTer?
XM_011522766.1:c.2436delinsAA	XP_011521068.1:p.His812GlnfsTer?
XM_011522767.1:c.1707delinsAA	XP_011521069.1:p.His569GlnfsTer?
XM_006720990.3:c.2682delinsAA	XP_006721053.1:p.His894GlnfsTer?
XM_006720991.3:c.2682delinsAA	XP_006721054.1:p.His894GlnfsTer?
XM_006720992.3:c.315delinsAA	XP_006721055.1:p.His105GlnfsTer?
XM_011522766.3:c.2436delinsAA	XP_011521068.1:p.His812GlnfsTer?
XM_011522767.2:c.1707delinsAA	XP_011521069.1:p.His569GlnfsTer?
XM_017023910.1:c.2682delinsAA	XP_016879399.1:p.His894GlnfsTer?
XM_017023911.1:c.867delinsAA	XP_016879400.1:p.His289GlnfsTer?
NM_014714.4:c.2682delinsAA MANE Select	NP_055529.2:p.His894GlnfsTer?