Canonical Allele Identifier: CA1737422709

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665461_117665462delinsCA , CM000669.2:g.117665461_117665462delinsCA	GRCh38
NC_000007.13:g.117305515_117305516delinsCA , CM000669.1:g.117305515_117305516delinsCA	GRCh37
NC_000007.12:g.117092751_117092752delinsCA	NCBI36
NG_016465.4:g.204678_204679delinsCA , LRG_663:g.204678_204679delinsCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*348_*349delinsCA	ENSP00000497673.2:n.*348_*349delinsCA
ENST00000647978.2:c.*3853_*3854delinsCA	ENSP00000497658.1:n.*3853_*3854delinsCA
ENST00000649781.2:c.3956_3957delinsCA	ENSP00000497203.1:p.Thr1319=
ENST00000685018.2:c.*352_*353delinsCA	ENSP00000510194.2:n.*352_*353delinsCA
ENST00000687278.2:c.*792_*793delinsCA	ENSP00000509593.2:n.*792_*793delinsCA
ENST00000699585.1:c.*348_*349delinsCA	ENSP00000514456.1:n.*348_*349delinsCA
ENST00000699598.1:c.4139_4140delinsCA	ENSP00000514467.1:p.Thr1380=
ENST00000699599.1:c.*352_*353delinsCA	ENSP00000514468.1:n.*352_*353delinsCA
ENST00000699600.1:c.*800_*801delinsCA	ENSP00000514469.1:n.*800_*801delinsCA
ENST00000699601.1:c.*2514_*2515delinsCA	ENSP00000514470.1:n.*2514_*2515delinsCA
ENST00000699602.1:c.4133_4134delinsCA	ENSP00000514471.1:p.Thr1378=
ENST00000699604.1:c.*3963_*3964delinsCA	ENSP00000514472.1:n.*3963_*3964delinsCA
ENST00000699605.1:c.3713_3714delinsCA	ENSP00000514473.1:p.Thr1238=
ENST00000699606.1:n.2307_2308delinsCA
ENST00000685018.1:c.1003_1004delinsCA	ENSP00000510194.1:n.1003_1004delinsCA
ENST00000687278.1:c.1926_1927delinsCA	ENSP00000509593.1:n.1926_1927delinsCA
ENST00000689011.1:c.721_722delinsCA
ENST00000003084.11:c.4139_4140delinsCA MANE Select	ENSP00000003084.6:p.Thr1380=
ENST00000647720.1:c.1589_1590delinsCA
ENST00000649781.1:c.3956_3957delinsCA	ENSP00000497203.1:p.Thr1319=
ENST00000003084.10:c.4139_4140delinsCA	ENSP00000003084.6:p.Thr1380=
ENST00000426809.5:c.4049_4050delinsCA	ENSP00000389119.1:p.Thr1350=
ENST00000600166.1:c.265_266delinsCA
NM_000492.3:c.4139_4140delinsCA , LRG_663t1:c.4139_4140delinsCA	NP_000483.3:p.Thr1380=
XM_011515751.1:c.4229_4230delinsCA	XP_011514053.1:p.Thr1410=
XM_011515752.1:c.4229_4230delinsCA	XP_011514054.1:p.Thr1410=
XM_011515753.1:c.3896_3897delinsCA	XP_011514055.1:p.Thr1299=
XM_011515754.1:c.3896_3897delinsCA	XP_011514056.1:p.Thr1299=
NM_000492.4:c.4139_4140delinsCA MANE Select	NP_000483.3:p.Thr1380=