Canonical Allele Identifier: CA1737422051

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664794_117664795delinsCT , CM000669.2:g.117664794_117664795delinsCT	GRCh38
NC_000007.13:g.117304848_117304849delinsCT , CM000669.1:g.117304848_117304849delinsCT	GRCh37
NC_000007.12:g.117092084_117092085delinsCT	NCBI36
NG_016465.4:g.204011_204012delinsCT , LRG_663:g.204011_204012delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*279_*280delinsCT	ENSP00000497673.2:n.*279_*280delinsCT
ENST00000647978.2:c.*3784_*3785delinsCT	ENSP00000497658.1:n.*3784_*3785delinsCT
ENST00000649781.2:c.3887_3888delinsCT	ENSP00000497203.1:p.Ala1296=
ENST00000685018.2:c.*283_*284delinsCT	ENSP00000510194.2:n.*283_*284delinsCT
ENST00000687278.2:c.*723_*724delinsCT	ENSP00000509593.2:n.*723_*724delinsCT
ENST00000699585.1:c.*279_*280delinsCT	ENSP00000514456.1:n.*279_*280delinsCT
ENST00000699598.1:c.4070_4071delinsCT	ENSP00000514467.1:p.Ala1357=
ENST00000699599.1:c.*283_*284delinsCT	ENSP00000514468.1:n.*283_*284delinsCT
ENST00000699600.1:c.*731_*732delinsCT	ENSP00000514469.1:n.*731_*732delinsCT
ENST00000699601.1:c.*2445_*2446delinsCT	ENSP00000514470.1:n.*2445_*2446delinsCT
ENST00000699602.1:c.4064_4065delinsCT	ENSP00000514471.1:p.Ala1355=
ENST00000699604.1:c.*3894_*3895delinsCT	ENSP00000514472.1:n.*3894_*3895delinsCT
ENST00000699605.1:c.3644_3645delinsCT	ENSP00000514473.1:p.Ala1215=
ENST00000699606.1:n.2238_2239delinsCT
ENST00000685018.1:c.934_935delinsCT	ENSP00000510194.1:n.934_935delinsCT
ENST00000687278.1:c.1857_1858delinsCT	ENSP00000509593.1:n.1857_1858delinsCT
ENST00000689011.1:c.652_653delinsCT
ENST00000003084.11:c.4070_4071delinsCT MANE Select	ENSP00000003084.6:p.Ala1357=
ENST00000647720.1:c.1520_1521delinsCT
ENST00000649781.1:c.3887_3888delinsCT	ENSP00000497203.1:p.Ala1296=
ENST00000003084.10:c.4070_4071delinsCT	ENSP00000003084.6:p.Ala1357=
ENST00000426809.5:c.3980_3981delinsCT	ENSP00000389119.1:p.Ala1327=
ENST00000600166.1:c.196_197delinsCT
NM_000492.3:c.4070_4071delinsCT , LRG_663t1:c.4070_4071delinsCT	NP_000483.3:p.Ala1357=
XM_011515751.1:c.4160_4161delinsCT	XP_011514053.1:p.Ala1387=
XM_011515752.1:c.4160_4161delinsCT	XP_011514054.1:p.Ala1387=
XM_011515753.1:c.3827_3828delinsCT	XP_011514055.1:p.Ala1276=
XM_011515754.1:c.3827_3828delinsCT	XP_011514056.1:p.Ala1276=
NM_000492.4:c.4070_4071delinsCT MANE Select	NP_000483.3:p.Ala1357=