Canonical Allele Identifier: CA2201718347

Gene: IFT140

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1510965_1510986delinsTTCCACCACCTCCTCGTCCAGC , CM000678.2:g.1510965_1510986delinsTTCCACCACCTCCTCGTCCAGC	GRCh38
NC_000016.9:g.1560966_1560987delinsTTCCACCACCTCCTCGTCCAGC , CM000678.1:g.1560966_1560987delinsTTCCACCACCTCCTCGTCCAGC	GRCh37
NC_000016.8:g.1500967_1500988delinsTTCCACCACCTCCTCGTCCAGC	NCBI36
NG_032783.1:g.106123_106144delinsGCTGGACGAGGAGGTGGTGGAA
NG_050910.1:g.22622_22643delinsTTCCACCACCTCCTCGTCCAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.4347_4368delinsGCTGGACGAGGAGGTGGTGGAA MANE Select	ENSP00000406012.2:p.Glu1449=
ENST00000361339.9:c.1929_1950delinsGCTGGACGAGGAGGTGGTGGAA	ENSP00000354895.5:p.Glu643=
ENST00000397417.6:c.*2785_*2806delinsGCTGGACGAGGAGGTGGTGGAA	ENSP00000380562.2:n.*2785_*2806delinsGCTGGACGAGGAGGTGGTGGAA
ENST00000426508.6:c.4347_4368delinsGCTGGACGAGGAGGTGGTGGAA	ENSP00000406012.2:p.Glu1449=
ENST00000565298.5:n.4171_4192delinsGCTGGACGAGGAGGTGGTGGAA
NM_014714.3:c.4347_4368delinsGCTGGACGAGGAGGTGGTGGAA	NP_055529.2:p.Glu1449=
XM_006720989.2:c.4347_4368delinsGCTGGACGAGGAGGTGGTGGAA	XP_006721052.1:p.Glu1449=
XM_006720990.2:c.4347_4368delinsGCTGGACGAGGAGGTGGTGGAA	XP_006721053.1:p.Glu1449=
XM_006720991.2:c.4347_4368delinsGCTGGACGAGGAGGTGGTGGAA	XP_006721054.1:p.Glu1449=
XM_006720992.2:c.1980_2001delinsGCTGGACGAGGAGGTGGTGGAA	XP_006721055.1:p.Glu660=
XM_011522766.1:c.4101_4122delinsGCTGGACGAGGAGGTGGTGGAA	XP_011521068.1:p.Glu1367=
XM_011522767.1:c.3372_3393delinsGCTGGACGAGGAGGTGGTGGAA	XP_011521069.1:p.Glu1124=
XM_006720990.3:c.4347_4368delinsGCTGGACGAGGAGGTGGTGGAA	XP_006721053.1:p.Glu1449=
XM_006720991.3:c.4347_4368delinsGCTGGACGAGGAGGTGGTGGAA	XP_006721054.1:p.Glu1449=
XM_006720992.3:c.1980_2001delinsGCTGGACGAGGAGGTGGTGGAA	XP_006721055.1:p.Glu660=
XM_011522766.3:c.4101_4122delinsGCTGGACGAGGAGGTGGTGGAA	XP_011521068.1:p.Glu1367=
XM_011522767.2:c.3372_3393delinsGCTGGACGAGGAGGTGGTGGAA	XP_011521069.1:p.Glu1124=
XM_017023910.1:c.4347_4368delinsGCTGGACGAGGAGGTGGTGGAA	XP_016879399.1:p.Glu1449=
XM_017023911.1:c.2532_2553delinsGCTGGACGAGGAGGTGGTGGAA	XP_016879400.1:p.Glu844=
NM_014714.4:c.4347_4368delinsGCTGGACGAGGAGGTGGTGGAA MANE Select	NP_055529.2:p.Glu1449=