Canonical Allele Identifier: CA2839410360

Gene: IFT140

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1511032dup , CM000678.2:g.1511032dup	GRCh38
NC_000016.9:g.1561033dup , CM000678.1:g.1561033dup	GRCh37
NC_000016.8:g.1501034dup	NCBI36
NG_032783.1:g.106078dup
NG_050910.1:g.22689dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.4302dup MANE Select	ENSP00000406012.2:p.Val1435ArgfsTer26
ENST00000361339.9:c.1884dup	ENSP00000354895.5:p.Val629ArgfsTer26
ENST00000397417.6:c.*2740dup	ENSP00000380562.2:n.*2740dup
ENST00000426508.6:c.4302dup	ENSP00000406012.2:p.Val1435ArgfsTer26
ENST00000565298.5:n.4126dup
NM_014714.3:c.4302dup	NP_055529.2:p.Val1435ArgfsTer26
XM_006720989.2:c.4302dup	XP_006721052.1:p.Val1435ArgfsTer26
XM_006720990.2:c.4302dup	XP_006721053.1:p.Val1435ArgfsTer26
XM_006720991.2:c.4302dup	XP_006721054.1:p.Val1435ArgfsTer26
XM_006720992.2:c.1935dup	XP_006721055.1:p.Val646ArgfsTer26
XM_011522766.1:c.4056dup	XP_011521068.1:p.Val1353ArgfsTer26
XM_011522767.1:c.3327dup	XP_011521069.1:p.Val1110ArgfsTer26
XM_006720990.3:c.4302dup	XP_006721053.1:p.Val1435ArgfsTer26
XM_006720991.3:c.4302dup	XP_006721054.1:p.Val1435ArgfsTer26
XM_006720992.3:c.1935dup	XP_006721055.1:p.Val646ArgfsTer26
XM_011522766.3:c.4056dup	XP_011521068.1:p.Val1353ArgfsTer26
XM_011522767.2:c.3327dup	XP_011521069.1:p.Val1110ArgfsTer26
XM_017023910.1:c.4302dup	XP_016879399.1:p.Val1435ArgfsTer26
XM_017023911.1:c.2487dup	XP_016879400.1:p.Val830ArgfsTer26
NM_014714.4:c.4302dup MANE Select	NP_055529.2:p.Val1435ArgfsTer26