Canonical Allele Identifier: CA645576265

Gene: IFT140

Linked Data

• COSMIC: COSM434713

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1566241_1566242del , CM000678.2:g.1566241_1566242del	GRCh38
NC_000016.9:g.1616242_1616243del , CM000678.1:g.1616242_1616243del	GRCh37
NC_000016.8:g.1556243_1556244del	NCBI36
NG_032783.1:g.50870_50871del

Transcript Alleles

HGVS	Amino-acid change
ENST00000426508.7:c.1823_1824del MANE Select	ENSP00000406012.2:p.Thr608SerfsTer5
ENST00000397417.6:c.*375_*376del	ENSP00000380562.2:n.*375_*376del
ENST00000426508.6:c.1823_1824del	ENSP00000406012.2:p.Thr608SerfsTer5
ENST00000439987.6:n.1884_1885del
ENST00000565298.5:n.511_512del
NM_014714.3:c.1823_1824del	NP_055529.2:p.Thr608SerfsTer5
XM_005255725.3:c.1823_1824del	XP_005255782.1:p.Thr608SerfsTer5
XM_005255726.2:c.1823_1824del	XP_005255783.1:p.Thr608SerfsTer5
XM_006720989.2:c.1823_1824del	XP_006721052.1:p.Thr608SerfsTer5
XM_006720990.2:c.1823_1824del	XP_006721053.1:p.Thr608SerfsTer5
XM_006720991.2:c.1823_1824del	XP_006721054.1:p.Thr608SerfsTer5
XM_011522766.1:c.1577_1578del	XP_011521068.1:p.Thr526SerfsTer5
XM_011522767.1:c.848_849del	XP_011521069.1:p.Thr283SerfsTer5
XM_011522768.1:c.1823_1824del	XP_011521070.1:p.Thr608SerfsTer5
XM_011522769.1:c.1823_1824del	XP_011521071.1:p.Thr608SerfsTer5
XM_011522771.1:c.1823_1824del	XP_011521073.1:p.Thr608SerfsTer5
XM_011522772.1:c.1823_1824del	XP_011521074.1:p.Thr608SerfsTer5
XM_005255725.5:c.1823_1824del	XP_005255782.1:p.Thr608SerfsTer5
XM_005255726.4:c.1823_1824del	XP_005255783.1:p.Thr608SerfsTer5
XM_006720990.3:c.1823_1824del	XP_006721053.1:p.Thr608SerfsTer5
XM_006720991.3:c.1823_1824del	XP_006721054.1:p.Thr608SerfsTer5
XM_011522766.3:c.1577_1578del	XP_011521068.1:p.Thr526SerfsTer5
XM_011522767.2:c.848_849del	XP_011521069.1:p.Thr283SerfsTer5
XM_011522769.3:c.1823_1824del	XP_011521071.1:p.Thr608SerfsTer5
XM_011522771.3:c.1823_1824del	XP_011521073.1:p.Thr608SerfsTer5
XM_011522772.3:c.1823_1824del	XP_011521074.1:p.Thr608SerfsTer5
XM_017023910.1:c.1823_1824del	XP_016879399.1:p.Thr608SerfsTer5
XM_017023911.1:c.8_9del	XP_016879400.1:p.Thr3SerfsTer5
NM_014714.4:c.1823_1824del MANE Select	NP_055529.2:p.Thr608SerfsTer5