Canonical Allele Identifier: CA1737407250

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117666914_117666915delinsGA , CM000669.2:g.117666914_117666915delinsGA	GRCh38
NC_000007.13:g.117306968_117306969delinsGA , CM000669.1:g.117306968_117306969delinsGA	GRCh37
NC_000007.12:g.117094204_117094205delinsGA	NCBI36
NG_016465.4:g.206131_206132delinsGA , LRG_663:g.206131_206132delinsGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*458_*459delinsGA	ENSP00000497673.2:n.*458_*459delinsGA
ENST00000647978.2:c.*3963_*3964delinsGA	ENSP00000497658.1:n.*3963_*3964delinsGA
ENST00000649781.2:c.4066_4067delinsGA	ENSP00000497203.1:p.Glu1356=
ENST00000685018.2:c.*462_*463delinsGA	ENSP00000510194.2:n.*462_*463delinsGA
ENST00000687278.2:c.*896-688_*896-687delinsGA	ENSP00000509593.2:n.*896-688_*896-687delinsGA
ENST00000699585.1:c.*718_*719delinsGA	ENSP00000514456.1:n.*718_*719delinsGA
ENST00000699598.1:c.4243-1_4243delinsGA
ENST00000699599.1:c.*462_*463delinsGA	ENSP00000514468.1:n.*462_*463delinsGA
ENST00000699600.1:c.*904-688_*904-687delinsGA	ENSP00000514469.1:n.*904-688_*904-687delinsGA
ENST00000699601.1:c.*2624_*2625delinsGA	ENSP00000514470.1:n.*2624_*2625delinsGA
ENST00000699602.1:c.4243_4244delinsGA	ENSP00000514471.1:p.Glu1415=
ENST00000699604.1:c.*4073_*4074delinsGA	ENSP00000514472.1:n.*4073_*4074delinsGA
ENST00000699605.1:c.3823_3824delinsGA	ENSP00000514473.1:p.Glu1275=
ENST00000699606.1:n.3760_3761delinsGA
ENST00000685018.1:c.1113_1114delinsGA	ENSP00000510194.1:n.1113_1114delinsGA
ENST00000687278.1:c.2030-688_2030-687delinsGA	ENSP00000509593.1:n.2030-688_2030-687delinsGA
ENST00000689011.1:c.1091_1092delinsGA
ENST00000003084.11:c.4249_4250delinsGA MANE Select	ENSP00000003084.6:p.Glu1417=
ENST00000647720.1:c.1699_1700delinsGA
ENST00000649781.1:c.4066_4067delinsGA	ENSP00000497203.1:p.Glu1356=
ENST00000003084.10:c.4249_4250delinsGA	ENSP00000003084.6:p.Glu1417=
ENST00000426809.5:c.4159_4160delinsGA	ENSP00000389119.1:p.Glu1387=
ENST00000600166.1:c.368+1350_368+1351delinsGA
NM_000492.3:c.4249_4250delinsGA , LRG_663t1:c.4249_4250delinsGA	NP_000483.3:p.Glu1417=
XM_011515751.1:c.4339_4340delinsGA	XP_011514053.1:p.Glu1447=
XM_011515753.1:c.4006_4007delinsGA	XP_011514055.1:p.Glu1336=
XM_011515754.1:c.4006_4007delinsGA	XP_011514056.1:p.Glu1336=
NM_000492.4:c.4249_4250delinsGA MANE Select	NP_000483.3:p.Glu1417=