Canonical Allele Identifier: CA1737404763

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642496_117642499delinsGACT , CM000669.2:g.117642496_117642499delinsGACT	GRCh38
NC_000007.13:g.117282550_117282553delinsGACT , CM000669.1:g.117282550_117282553delinsGACT	GRCh37
NC_000007.12:g.117069786_117069789delinsGACT	NCBI36
NG_016465.4:g.181713_181716delinsGACT , LRG_663:g.181713_181716delinsGACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3576_3579delinsGACT	ENSP00000497673.2:p.Glu1192=
ENST00000647978.2:c.*3490_*3493delinsGACT	ENSP00000497658.1:n.*3490_*3493delinsGACT
ENST00000649781.2:c.3593_3596delinsGACT	ENSP00000497203.1:p.Arg1198=
ENST00000685018.2:c.3776_3779delinsGACT	ENSP00000510194.2:p.Arg1259=
ENST00000687278.2:c.*429_*432delinsGACT	ENSP00000509593.2:n.*429_*432delinsGACT
ENST00000699585.1:c.3576_3579delinsGACT	ENSP00000514456.1:p.Glu1192=
ENST00000699598.1:c.3776_3779delinsGACT	ENSP00000514467.1:p.Arg1259=
ENST00000699599.1:c.3776_3779delinsGACT	ENSP00000514468.1:p.Arg1259=
ENST00000699600.1:c.*437_*440delinsGACT	ENSP00000514469.1:n.*437_*440delinsGACT
ENST00000699601.1:c.*2151_*2154delinsGACT	ENSP00000514470.1:n.*2151_*2154delinsGACT
ENST00000699602.1:c.3770_3773delinsGACT	ENSP00000514471.1:p.Arg1257=
ENST00000699604.1:c.*3600_*3603delinsGACT	ENSP00000514472.1:n.*3600_*3603delinsGACT
ENST00000699605.1:c.3350_3353delinsGACT	ENSP00000514473.1:p.Arg1117=
ENST00000685018.1:c.524_527delinsGACT	ENSP00000510194.1:p.Arg175=
ENST00000687278.1:c.1563_1566delinsGACT	ENSP00000509593.1:n.1563_1566delinsGACT
ENST00000689011.1:c.358_361delinsGACT
ENST00000003084.11:c.3776_3779delinsGACT MANE Select	ENSP00000003084.6:p.Arg1259=
ENST00000647720.1:c.1226_1229delinsGACT
ENST00000649781.1:c.3593_3596delinsGACT	ENSP00000497203.1:p.Arg1198=
ENST00000003084.10:c.3776_3779delinsGACT	ENSP00000003084.6:p.Arg1259=
ENST00000426809.5:c.3686_3689delinsGACT	ENSP00000389119.1:p.Arg1229=
NM_000492.3:c.3776_3779delinsGACT , LRG_663t1:c.3776_3779delinsGACT	NP_000483.3:p.Arg1259=
XM_011515751.1:c.3866_3869delinsGACT	XP_011514053.1:p.Arg1289=
XM_011515752.1:c.3866_3869delinsGACT	XP_011514054.1:p.Arg1289=
XM_011515753.1:c.3533_3536delinsGACT	XP_011514055.1:p.Arg1178=
XM_011515754.1:c.3533_3536delinsGACT	XP_011514056.1:p.Arg1178=
NM_000492.4:c.3776_3779delinsGACT MANE Select	NP_000483.3:p.Arg1259=