Canonical Allele Identifier: CA2843267408

Gene: IFT140

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1523554dup , CM000678.2:g.1523554dup	GRCh38
NC_000016.9:g.1573555dup , CM000678.1:g.1573555dup	GRCh37
NC_000016.8:g.1513556dup	NCBI36
NG_032783.1:g.93555dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.3417dup MANE Select	ENSP00000406012.2:p.Glu1140ArgfsTer?
ENST00000361339.9:c.999dup	ENSP00000354895.5:p.Glu334ArgfsTer?
ENST00000397417.6:c.*1855dup	ENSP00000380562.2:n.*1855dup
ENST00000426508.6:c.3417dup	ENSP00000406012.2:p.Glu1140ArgfsTer?
ENST00000565298.5:n.3241dup
NM_014714.3:c.3417dup	NP_055529.2:p.Glu1140ArgfsTer?
XM_006720989.2:c.3417dup	XP_006721052.1:p.Glu1140ArgfsTer?
XM_006720990.2:c.3417dup	XP_006721053.1:p.Glu1140ArgfsTer?
XM_006720991.2:c.3417dup	XP_006721054.1:p.Glu1140ArgfsTer?
XM_006720992.2:c.1050dup	XP_006721055.1:p.Glu351ArgfsTer?
XM_011522766.1:c.3171dup	XP_011521068.1:p.Glu1058ArgfsTer?
XM_011522767.1:c.2442dup	XP_011521069.1:p.Glu815ArgfsTer?
XM_006720990.3:c.3417dup	XP_006721053.1:p.Glu1140ArgfsTer?
XM_006720991.3:c.3417dup	XP_006721054.1:p.Glu1140ArgfsTer?
XM_006720992.3:c.1050dup	XP_006721055.1:p.Glu351ArgfsTer?
XM_011522766.3:c.3171dup	XP_011521068.1:p.Glu1058ArgfsTer?
XM_011522767.2:c.2442dup	XP_011521069.1:p.Glu815ArgfsTer?
XM_017023910.1:c.3417dup	XP_016879399.1:p.Glu1140ArgfsTer?
XM_017023911.1:c.1602dup	XP_016879400.1:p.Glu535ArgfsTer?
NM_014714.4:c.3417dup MANE Select	NP_055529.2:p.Glu1140ArgfsTer?