Canonical Allele Identifier: CA645593041

Gene: IFT140

Linked Data

• COSMIC: COSM225038

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1511058_1511059delinsTT , CM000678.2:g.1511058_1511059delinsTT	GRCh38
NC_000016.9:g.1561059_1561060delinsTT , CM000678.1:g.1561059_1561060delinsTT	GRCh37
NC_000016.8:g.1501060_1501061delinsTT	NCBI36
NG_032783.1:g.106050_106051delinsAA
NG_050910.1:g.22715_22716delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.4274_4275delinsAA MANE Select	ENSP00000406012.2:p.Arg1425Gln
ENST00000361339.9:c.1856_1857delinsAA	ENSP00000354895.5:p.Arg619Gln
ENST00000397417.6:c.*2712_*2713delinsAA	ENSP00000380562.2:n.*2712_*2713delinsAA
ENST00000426508.6:c.4274_4275delinsAA	ENSP00000406012.2:p.Arg1425Gln
ENST00000565298.5:n.4098_4099delinsAA
NM_014714.3:c.4274_4275delinsAA	NP_055529.2:p.Arg1425Gln
XM_006720989.2:c.4274_4275delinsAA	XP_006721052.1:p.Arg1425Gln
XM_006720990.2:c.4274_4275delinsAA	XP_006721053.1:p.Arg1425Gln
XM_006720991.2:c.4274_4275delinsAA	XP_006721054.1:p.Arg1425Gln
XM_006720992.2:c.1907_1908delinsAA	XP_006721055.1:p.Arg636Gln
XM_011522766.1:c.4028_4029delinsAA	XP_011521068.1:p.Arg1343Gln
XM_011522767.1:c.3299_3300delinsAA	XP_011521069.1:p.Arg1100Gln
XM_006720990.3:c.4274_4275delinsAA	XP_006721053.1:p.Arg1425Gln
XM_006720991.3:c.4274_4275delinsAA	XP_006721054.1:p.Arg1425Gln
XM_006720992.3:c.1907_1908delinsAA	XP_006721055.1:p.Arg636Gln
XM_011522766.3:c.4028_4029delinsAA	XP_011521068.1:p.Arg1343Gln
XM_011522767.2:c.3299_3300delinsAA	XP_011521069.1:p.Arg1100Gln
XM_017023910.1:c.4274_4275delinsAA	XP_016879399.1:p.Arg1425Gln
XM_017023911.1:c.2459_2460delinsAA	XP_016879400.1:p.Arg820Gln
NM_014714.4:c.4274_4275delinsAA MANE Select	NP_055529.2:p.Arg1425Gln