Canonical Allele Identifier: CA1737395063

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592405_117592413delinsGGCGATACT , CM000669.2:g.117592405_117592413delinsGGCGATACT	GRCh38
NC_000007.13:g.117232459_117232467delinsGGCGATACT , CM000669.1:g.117232459_117232467delinsGGCGATACT	GRCh37
NC_000007.12:g.117019695_117019703delinsGGCGATACT	NCBI36
NG_016465.4:g.131622_131630delinsGGCGATACT , LRG_663:g.131622_131630delinsGGCGATACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2238_2246delinsGGCGATACT	ENSP00000497673.2:p.Glu746=
ENST00000647978.2:c.*1952_*1960delinsGGCGATACT	ENSP00000497658.1:n.*1952_*1960delinsGGCGATACT
ENST00000649781.2:c.2055_2063delinsGGCGATACT	ENSP00000497203.1:p.Glu685=
ENST00000685018.2:c.2238_2246delinsGGCGATACT	ENSP00000510194.2:p.Glu746=
ENST00000687278.2:c.2238_2246delinsGGCGATACT	ENSP00000509593.2:p.Glu746=
ENST00000699585.1:c.2238_2246delinsGGCGATACT	ENSP00000514456.1:p.Glu746=
ENST00000699598.1:c.2238_2246delinsGGCGATACT	ENSP00000514467.1:p.Glu746=
ENST00000699599.1:c.2238_2246delinsGGCGATACT	ENSP00000514468.1:p.Glu746=
ENST00000699600.1:c.2238_2246delinsGGCGATACT	ENSP00000514469.1:p.Glu746=
ENST00000699601.1:c.*538_*546delinsGGCGATACT	ENSP00000514470.1:n.*538_*546delinsGGCGATACT
ENST00000699602.1:c.2238_2246delinsGGCGATACT	ENSP00000514471.1:p.Glu746=
ENST00000699604.1:c.*2062_*2070delinsGGCGATACT	ENSP00000514472.1:n.*2062_*2070delinsGGCGATACT
ENST00000699605.1:c.1812_1820delinsGGCGATACT	ENSP00000514473.1:p.Glu604=
ENST00000003084.11:c.2238_2246delinsGGCGATACT MANE Select	ENSP00000003084.6:p.Glu746=
ENST00000647978.1:c.*1952_*1960delinsGGCGATACT	ENSP00000497658.1:n.*1952_*1960delinsGGCGATACT
ENST00000648260.1:c.1402-10421_1402-10413delinsGGCGATACT	ENSP00000497957.1:n.1402-10421_1402-10413delinsGGCGATACT
ENST00000649406.1:c.2055_2063delinsGGCGATACT	ENSP00000497965.1:p.Glu685=
ENST00000649781.1:c.2055_2063delinsGGCGATACT	ENSP00000497203.1:p.Glu685=
ENST00000003084.10:c.2238_2246delinsGGCGATACT	ENSP00000003084.6:p.Glu746=
ENST00000426809.5:c.2148_2156delinsGGCGATACT	ENSP00000389119.1:p.Glu716=
NM_000492.3:c.2238_2246delinsGGCGATACT , LRG_663t1:c.2238_2246delinsGGCGATACT	NP_000483.3:p.Glu746=
XM_011515751.1:c.2328_2336delinsGGCGATACT	XP_011514053.1:p.Glu776=
XM_011515752.1:c.2328_2336delinsGGCGATACT	XP_011514054.1:p.Glu776=
XM_011515753.1:c.1995_2003delinsGGCGATACT	XP_011514055.1:p.Glu665=
XM_011515754.1:c.1995_2003delinsGGCGATACT	XP_011514056.1:p.Glu665=
NM_000492.4:c.2238_2246delinsGGCGATACT MANE Select	NP_000483.3:p.Glu746=