Canonical Allele Identifier: CA2201723311

Gene: IFT140

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1519939_1519940delinsTG , CM000678.2:g.1519939_1519940delinsTG	GRCh38
NC_000016.9:g.1569940_1569941delinsTG , CM000678.1:g.1569940_1569941delinsTG	GRCh37
NC_000016.8:g.1509941_1509942delinsTG	NCBI36
NG_032783.1:g.97169_97170delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.3981_3982delinsCA MANE Select	ENSP00000406012.2:p.Thr1327=
ENST00000361339.9:c.1563_1564delinsCA	ENSP00000354895.5:p.Thr521=
ENST00000397417.6:c.*2419_*2420delinsCA	ENSP00000380562.2:n.*2419_*2420delinsCA
ENST00000426508.6:c.3981_3982delinsCA	ENSP00000406012.2:p.Thr1327=
ENST00000565298.5:n.3805_3806delinsCA
ENST00000568837.1:c.99_100delinsCA	ENSP00000458439.1:p.Thr33=
NM_014714.3:c.3981_3982delinsCA	NP_055529.2:p.Thr1327=
XM_006720989.2:c.3981_3982delinsCA	XP_006721052.1:p.Thr1327=
XM_006720990.2:c.3981_3982delinsCA	XP_006721053.1:p.Thr1327=
XM_006720991.2:c.3981_3982delinsCA	XP_006721054.1:p.Thr1327=
XM_006720992.2:c.1614_1615delinsCA	XP_006721055.1:p.Thr538=
XM_011522766.1:c.3735_3736delinsCA	XP_011521068.1:p.Thr1245=
XM_011522767.1:c.3006_3007delinsCA	XP_011521069.1:p.Thr1002=
XM_006720990.3:c.3981_3982delinsCA	XP_006721053.1:p.Thr1327=
XM_006720991.3:c.3981_3982delinsCA	XP_006721054.1:p.Thr1327=
XM_006720992.3:c.1614_1615delinsCA	XP_006721055.1:p.Thr538=
XM_011522766.3:c.3735_3736delinsCA	XP_011521068.1:p.Thr1245=
XM_011522767.2:c.3006_3007delinsCA	XP_011521069.1:p.Thr1002=
XM_017023910.1:c.3981_3982delinsCA	XP_016879399.1:p.Thr1327=
XM_017023911.1:c.2166_2167delinsCA	XP_016879400.1:p.Thr722=
NM_014714.4:c.3981_3982delinsCA MANE Select	NP_055529.2:p.Thr1327=