Canonical Allele Identifier: CA1737404794

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642553_117642555delinsCTT , CM000669.2:g.117642553_117642555delinsCTT	GRCh38
NC_000007.13:g.117282607_117282609delinsCTT , CM000669.1:g.117282607_117282609delinsCTT	GRCh37
NC_000007.12:g.117069843_117069845delinsCTT	NCBI36
NG_016465.4:g.181770_181772delinsCTT , LRG_663:g.181770_181772delinsCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*42_*44delinsCTT	ENSP00000497673.2:n.*42_*44delinsCTT
ENST00000647978.2:c.*3547_*3549delinsCTT	ENSP00000497658.1:n.*3547_*3549delinsCTT
ENST00000649781.2:c.3650_3652delinsCTT	ENSP00000497203.1:p.Thr1217=
ENST00000685018.2:c.3833_3835delinsCTT	ENSP00000510194.2:p.Thr1278=
ENST00000687278.2:c.*486_*488delinsCTT	ENSP00000509593.2:n.*486_*488delinsCTT
ENST00000699585.1:c.*42_*44delinsCTT	ENSP00000514456.1:n.*42_*44delinsCTT
ENST00000699598.1:c.3833_3835delinsCTT	ENSP00000514467.1:p.Thr1278=
ENST00000699599.1:c.3833_3835delinsCTT	ENSP00000514468.1:p.Thr1278=
ENST00000699600.1:c.*494_*496delinsCTT	ENSP00000514469.1:n.*494_*496delinsCTT
ENST00000699601.1:c.*2208_*2210delinsCTT	ENSP00000514470.1:n.*2208_*2210delinsCTT
ENST00000699602.1:c.3827_3829delinsCTT	ENSP00000514471.1:p.Thr1276=
ENST00000699604.1:c.*3657_*3659delinsCTT	ENSP00000514472.1:n.*3657_*3659delinsCTT
ENST00000699605.1:c.3407_3409delinsCTT	ENSP00000514473.1:p.Thr1136=
ENST00000685018.1:c.581_583delinsCTT	ENSP00000510194.1:p.Thr194=
ENST00000687278.1:c.1620_1622delinsCTT	ENSP00000509593.1:n.1620_1622delinsCTT
ENST00000689011.1:c.415_417delinsCTT
ENST00000003084.11:c.3833_3835delinsCTT MANE Select	ENSP00000003084.6:p.Thr1278=
ENST00000647720.1:c.1283_1285delinsCTT
ENST00000649781.1:c.3650_3652delinsCTT	ENSP00000497203.1:p.Thr1217=
ENST00000003084.10:c.3833_3835delinsCTT	ENSP00000003084.6:p.Thr1278=
ENST00000426809.5:c.3743_3745delinsCTT	ENSP00000389119.1:p.Thr1248=
NM_000492.3:c.3833_3835delinsCTT , LRG_663t1:c.3833_3835delinsCTT	NP_000483.3:p.Thr1278=
XM_011515751.1:c.3923_3925delinsCTT	XP_011514053.1:p.Thr1308=
XM_011515752.1:c.3923_3925delinsCTT	XP_011514054.1:p.Thr1308=
XM_011515753.1:c.3590_3592delinsCTT	XP_011514055.1:p.Thr1197=
XM_011515754.1:c.3590_3592delinsCTT	XP_011514056.1:p.Thr1197=
NM_000492.4:c.3833_3835delinsCTT MANE Select	NP_000483.3:p.Thr1278=