Canonical Allele Identifier: CA1737391935

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117614613_117614616delinsGAGA , CM000669.2:g.117614613_117614616delinsGAGA	GRCh38
NC_000007.13:g.117254667_117254670delinsGAGA , CM000669.1:g.117254667_117254670delinsGAGA	GRCh37
NC_000007.12:g.117041903_117041906delinsGAGA	NCBI36
NG_016465.4:g.153830_153833delinsGAGA , LRG_663:g.153830_153833delinsGAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3368_3371delinsGAGA	ENSP00000497673.2:p.Gly1123=
ENST00000647978.2:c.*3082_*3085delinsGAGA	ENSP00000497658.1:n.*3082_*3085delinsGAGA
ENST00000649781.2:c.3185_3188delinsGAGA	ENSP00000497203.1:p.Gly1062=
ENST00000685018.2:c.3368_3371delinsGAGA	ENSP00000510194.2:p.Gly1123=
ENST00000687278.2:c.3368_3371delinsGAGA	ENSP00000509593.2:p.Gly1123=
ENST00000699585.1:c.3368_3371delinsGAGA	ENSP00000514456.1:p.Gly1123=
ENST00000699598.1:c.3368_3371delinsGAGA	ENSP00000514467.1:p.Gly1123=
ENST00000699599.1:c.3368_3371delinsGAGA	ENSP00000514468.1:p.Gly1123=
ENST00000699600.1:c.3368_3371delinsGAGA	ENSP00000514469.1:p.Gly1123=
ENST00000699601.1:c.*1743_*1746delinsGAGA	ENSP00000514470.1:n.*1743_*1746delinsGAGA
ENST00000699602.1:c.3368-6_3368-3delinsGAGA	ENSP00000514471.1:n.3368-6_3368-3delinsGAGA
ENST00000699604.1:c.*3192_*3195delinsGAGA	ENSP00000514472.1:n.*3192_*3195delinsGAGA
ENST00000699605.1:c.2942_2945delinsGAGA	ENSP00000514473.1:p.Gly981=
ENST00000685018.1:c.116_119delinsGAGA	ENSP00000510194.1:p.Gly39=
ENST00000687278.1:c.959_962delinsGAGA	ENSP00000509593.1:p.Gly320=
ENST00000003084.11:c.3368_3371delinsGAGA MANE Select	ENSP00000003084.6:p.Gly1123=
ENST00000647720.1:c.1018_1021delinsGAGA
ENST00000648260.1:c.2150_2153delinsGAGA	ENSP00000497957.1:p.Gly717=
ENST00000649406.1:c.3185_3188delinsGAGA	ENSP00000497965.1:p.Gly1062=
ENST00000649781.1:c.3185_3188delinsGAGA	ENSP00000497203.1:p.Gly1062=
ENST00000003084.10:c.3368_3371delinsGAGA	ENSP00000003084.6:p.Gly1123=
ENST00000426809.5:c.3278_3281delinsGAGA	ENSP00000389119.1:p.Gly1093=
ENST00000468795.1:c.193_196delinsGAGA
NM_000492.3:c.3368_3371delinsGAGA , LRG_663t1:c.3368_3371delinsGAGA	NP_000483.3:p.Gly1123=
XM_011515751.1:c.3458_3461delinsGAGA	XP_011514053.1:p.Gly1153=
XM_011515752.1:c.3458_3461delinsGAGA	XP_011514054.1:p.Gly1153=
XM_011515753.1:c.3125_3128delinsGAGA	XP_011514055.1:p.Gly1042=
XM_011515754.1:c.3125_3128delinsGAGA	XP_011514056.1:p.Gly1042=
NM_000492.4:c.3368_3371delinsGAGA MANE Select	NP_000483.3:p.Gly1123=