Canonical Allele Identifier: CA2843267409

Gene: IFT140

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1523577dup , CM000678.2:g.1523577dup	GRCh38
NC_000016.9:g.1573578dup , CM000678.1:g.1573578dup	GRCh37
NC_000016.8:g.1513579dup	NCBI36
NG_032783.1:g.93533dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.3395dup MANE Select	ENSP00000406012.2:p.Phe1133LeufsTer?
ENST00000361339.9:c.977dup	ENSP00000354895.5:p.Phe327LeufsTer?
ENST00000397417.6:c.*1833dup	ENSP00000380562.2:n.*1833dup
ENST00000426508.6:c.3395dup	ENSP00000406012.2:p.Phe1133LeufsTer?
ENST00000565298.5:n.3219dup
NM_014714.3:c.3395dup	NP_055529.2:p.Phe1133LeufsTer?
XM_006720989.2:c.3395dup	XP_006721052.1:p.Phe1133LeufsTer?
XM_006720990.2:c.3395dup	XP_006721053.1:p.Phe1133LeufsTer?
XM_006720991.2:c.3395dup	XP_006721054.1:p.Phe1133LeufsTer?
XM_006720992.2:c.1028dup	XP_006721055.1:p.Phe344LeufsTer?
XM_011522766.1:c.3149dup	XP_011521068.1:p.Phe1051LeufsTer?
XM_011522767.1:c.2420dup	XP_011521069.1:p.Phe808LeufsTer?
XM_006720990.3:c.3395dup	XP_006721053.1:p.Phe1133LeufsTer?
XM_006720991.3:c.3395dup	XP_006721054.1:p.Phe1133LeufsTer?
XM_006720992.3:c.1028dup	XP_006721055.1:p.Phe344LeufsTer?
XM_011522766.3:c.3149dup	XP_011521068.1:p.Phe1051LeufsTer?
XM_011522767.2:c.2420dup	XP_011521069.1:p.Phe808LeufsTer?
XM_017023910.1:c.3395dup	XP_016879399.1:p.Phe1133LeufsTer?
XM_017023911.1:c.1580dup	XP_016879400.1:p.Phe528LeufsTer?
NM_014714.4:c.3395dup MANE Select	NP_055529.2:p.Phe1133LeufsTer?