Canonical Allele Identifier: CA2201731281

Gene: IFT140

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1566129_1566138delinsTCCAACAAAA , CM000678.2:g.1566129_1566138delinsTCCAACAAAA	GRCh38
NC_000016.9:g.1616130_1616139delinsTCCAACAAAA , CM000678.1:g.1616130_1616139delinsTCCAACAAAA	GRCh37
NC_000016.8:g.1556131_1556140delinsTCCAACAAAA	NCBI36
NG_032783.1:g.50971_50980delinsTTTTGTTGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.1901+23_1901+32delinsTTTTGTTGGA MANE Select	ENSP00000406012.2:n.1901+23_1901+32delinsTTTTGTTGGA
ENST00000397417.6:c.*453+23_*453+32delinsTTTTGTTGGA	ENSP00000380562.2:n.*453+23_*453+32delinsTTTTGTTGGA
ENST00000426508.6:c.1901+23_1901+32delinsTTTTGTTGGA	ENSP00000406012.2:n.1901+23_1901+32delinsTTTTGTTGGA
ENST00000439987.6:n.1962+23_1962+32delinsTTTTGTTGGA
ENST00000565298.5:n.589+23_589+32delinsTTTTGTTGGA
NM_014714.3:c.1901+23_1901+32delinsTTTTGTTGGA	NP_055529.2:n.1901+23_1901+32delinsTTTTGTTGGA
XM_005255725.3:c.1901+23_1901+32delinsTTTTGTTGGA	XP_005255782.1:n.1901+23_1901+32delinsTTTTGTTGGA
XM_005255726.2:c.1901+23_1901+32delinsTTTTGTTGGA	XP_005255783.1:n.1901+23_1901+32delinsTTTTGTTGGA
XM_006720989.2:c.1901+23_1901+32delinsTTTTGTTGGA	XP_006721052.1:n.1901+23_1901+32delinsTTTTGTTGGA
XM_006720990.2:c.1901+23_1901+32delinsTTTTGTTGGA	XP_006721053.1:n.1901+23_1901+32delinsTTTTGTTGGA
XM_006720991.2:c.1901+23_1901+32delinsTTTTGTTGGA	XP_006721054.1:n.1901+23_1901+32delinsTTTTGTTGGA
XM_011522766.1:c.1655+23_1655+32delinsTTTTGTTGGA	XP_011521068.1:n.1655+23_1655+32delinsTTTTGTTGGA
XM_011522767.1:c.926+23_926+32delinsTTTTGTTGGA	XP_011521069.1:n.926+23_926+32delinsTTTTGTTGGA
XM_011522768.1:c.1901+23_1901+32delinsTTTTGTTGGA	XP_011521070.1:n.1901+23_1901+32delinsTTTTGTTGGA
XM_011522769.1:c.1901+23_1901+32delinsTTTTGTTGGA	XP_011521071.1:n.1901+23_1901+32delinsTTTTGTTGGA
XM_011522771.1:c.1901+23_1901+32delinsTTTTGTTGGA	XP_011521073.1:n.1901+23_1901+32delinsTTTTGTTGGA
XM_011522772.1:c.1901+23_1901+32delinsTTTTGTTGGA	XP_011521074.1:n.1901+23_1901+32delinsTTTTGTTGGA
XM_005255725.5:c.1901+23_1901+32delinsTTTTGTTGGA	XP_005255782.1:n.1901+23_1901+32delinsTTTTGTTGGA
XM_005255726.4:c.1901+23_1901+32delinsTTTTGTTGGA	XP_005255783.1:n.1901+23_1901+32delinsTTTTGTTGGA
XM_006720990.3:c.1901+23_1901+32delinsTTTTGTTGGA	XP_006721053.1:n.1901+23_1901+32delinsTTTTGTTGGA
XM_006720991.3:c.1901+23_1901+32delinsTTTTGTTGGA	XP_006721054.1:n.1901+23_1901+32delinsTTTTGTTGGA
XM_011522766.3:c.1655+23_1655+32delinsTTTTGTTGGA	XP_011521068.1:n.1655+23_1655+32delinsTTTTGTTGGA
XM_011522767.2:c.926+23_926+32delinsTTTTGTTGGA	XP_011521069.1:n.926+23_926+32delinsTTTTGTTGGA
XM_011522769.3:c.1901+23_1901+32delinsTTTTGTTGGA	XP_011521071.1:n.1901+23_1901+32delinsTTTTGTTGGA
XM_011522771.3:c.1901+23_1901+32delinsTTTTGTTGGA	XP_011521073.1:n.1901+23_1901+32delinsTTTTGTTGGA
XM_011522772.3:c.1901+23_1901+32delinsTTTTGTTGGA	XP_011521074.1:n.1901+23_1901+32delinsTTTTGTTGGA
XM_017023910.1:c.1901+23_1901+32delinsTTTTGTTGGA	XP_016879399.1:n.1901+23_1901+32delinsTTTTGTTGGA
XM_017023911.1:c.86+23_86+32delinsTTTTGTTGGA	XP_016879400.1:n.86+23_86+32delinsTTTTGTTGGA
NM_014714.4:c.1901+23_1901+32delinsTTTTGTTGGA MANE Select	NP_055529.2:n.1901+23_1901+32delinsTTTTGTTGGA