Canonical Allele Identifier: CA1737421742

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664699_117664700delinsAT , CM000669.2:g.117664699_117664700delinsAT	GRCh38
NC_000007.13:g.117304753_117304754delinsAT , CM000669.1:g.117304753_117304754delinsAT	GRCh37
NC_000007.12:g.117091989_117091990delinsAT	NCBI36
NG_016465.4:g.203916_203917delinsAT , LRG_663:g.203916_203917delinsAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*184_*185delinsAT	ENSP00000497673.2:n.*184_*185delinsAT
ENST00000647978.2:c.*3689_*3690delinsAT	ENSP00000497658.1:n.*3689_*3690delinsAT
ENST00000649781.2:c.3792_3793delinsAT	ENSP00000497203.1:p.Arg1264=
ENST00000685018.2:c.*188_*189delinsAT	ENSP00000510194.2:n.*188_*189delinsAT
ENST00000687278.2:c.*628_*629delinsAT	ENSP00000509593.2:n.*628_*629delinsAT
ENST00000699585.1:c.*184_*185delinsAT	ENSP00000514456.1:n.*184_*185delinsAT
ENST00000699598.1:c.3975_3976delinsAT	ENSP00000514467.1:p.Arg1325=
ENST00000699599.1:c.*188_*189delinsAT	ENSP00000514468.1:n.*188_*189delinsAT
ENST00000699600.1:c.*636_*637delinsAT	ENSP00000514469.1:n.*636_*637delinsAT
ENST00000699601.1:c.*2350_*2351delinsAT	ENSP00000514470.1:n.*2350_*2351delinsAT
ENST00000699602.1:c.3969_3970delinsAT	ENSP00000514471.1:p.Arg1323=
ENST00000699604.1:c.*3799_*3800delinsAT	ENSP00000514472.1:n.*3799_*3800delinsAT
ENST00000699605.1:c.3549_3550delinsAT	ENSP00000514473.1:p.Arg1183=
ENST00000699606.1:n.2143_2144delinsAT
ENST00000685018.1:c.839_840delinsAT	ENSP00000510194.1:n.839_840delinsAT
ENST00000687278.1:c.1762_1763delinsAT	ENSP00000509593.1:n.1762_1763delinsAT
ENST00000689011.1:c.557_558delinsAT
ENST00000003084.11:c.3975_3976delinsAT MANE Select	ENSP00000003084.6:p.Arg1325=
ENST00000647720.1:c.1425_1426delinsAT
ENST00000649781.1:c.3792_3793delinsAT	ENSP00000497203.1:p.Arg1264=
ENST00000003084.10:c.3975_3976delinsAT	ENSP00000003084.6:p.Arg1325=
ENST00000426809.5:c.3885_3886delinsAT	ENSP00000389119.1:p.Arg1295=
ENST00000600166.1:c.101_102delinsAT
NM_000492.3:c.3975_3976delinsAT , LRG_663t1:c.3975_3976delinsAT	NP_000483.3:p.Arg1325=
XM_011515751.1:c.4065_4066delinsAT	XP_011514053.1:p.Arg1355=
XM_011515752.1:c.4065_4066delinsAT	XP_011514054.1:p.Arg1355=
XM_011515753.1:c.3732_3733delinsAT	XP_011514055.1:p.Arg1244=
XM_011515754.1:c.3732_3733delinsAT	XP_011514056.1:p.Arg1244=
NM_000492.4:c.3975_3976delinsAT MANE Select	NP_000483.3:p.Arg1325=