Canonical Allele Identifier: CA1737369690

Gene: CFTR CFTR-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117548661_117548666delinsGAAAGC , CM000669.2:g.117548661_117548666delinsGAAAGC	GRCh38
NC_000007.13:g.117188715_117188720delinsGAAAGC , CM000669.1:g.117188715_117188720delinsGAAAGC	GRCh37
NC_000007.12:g.116975951_116975956delinsGAAAGC	NCBI36
NG_016465.4:g.87878_87883delinsGAAAGC , LRG_663:g.87878_87883delinsGAAAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1230_1235delinsGAAAGC (CFTR)	ENSP00000497673.2:p.Glu410=
ENST00000647978.2:c.*1106+6553_*1106+6558delinsGAAAGC (CFTR)	ENSP00000497658.1:n.*1106+6553_*1106+6558delinsGAAAGC
ENST00000649781.2:c.1209+6553_1209+6558delinsGAAAGC (CFTR)	ENSP00000497203.1:n.1209+6553_1209+6558delinsGAAAGC
ENST00000685018.2:c.1230_1235delinsGAAAGC (CFTR)	ENSP00000510194.2:p.Glu410=
ENST00000687278.2:c.1230_1235delinsGAAAGC (CFTR)	ENSP00000509593.2:p.Glu410=
ENST00000699585.1:c.1230_1235delinsGAAAGC (CFTR)	ENSP00000514456.1:p.Glu410=
ENST00000699596.1:c.1230_1235delinsGAAAGC (CFTR)	ENSP00000514465.1:p.Glu410=
ENST00000699597.1:c.1230_1235delinsGAAAGC (CFTR)	ENSP00000514466.1:p.Glu410=
ENST00000699598.1:c.1230_1235delinsGAAAGC (CFTR)	ENSP00000514467.1:p.Glu410=
ENST00000699599.1:c.1230_1235delinsGAAAGC (CFTR)	ENSP00000514468.1:p.Glu410=
ENST00000699600.1:c.1230_1235delinsGAAAGC (CFTR)	ENSP00000514469.1:p.Glu410=
ENST00000699601.1:c.1230_1235delinsGAAAGC (CFTR)	ENSP00000514470.1:p.Glu410=
ENST00000699602.1:c.1230_1235delinsGAAAGC (CFTR)	ENSP00000514471.1:p.Glu410=
ENST00000699604.1:c.*1054_*1059delinsGAAAGC (CFTR)	ENSP00000514472.1:n.*1054_*1059delinsGAAAGC
ENST00000699605.1:c.966+6553_966+6558delinsGAAAGC (CFTR)	ENSP00000514473.1:n.966+6553_966+6558delinsGAAAGC
ENST00000003084.11:c.1230_1235delinsGAAAGC (CFTR) MANE Select	ENSP00000003084.6:p.Glu410=
ENST00000647978.1:c.*1106+6553_*1106+6558delinsGAAAGC (CFTR)	ENSP00000497658.1:n.*1106+6553_*1106+6558delinsGAAAGC
ENST00000648260.1:c.1209+6553_1209+6558delinsGAAAGC (CFTR)	ENSP00000497957.1:n.1209+6553_1209+6558delinsGAAAGC
ENST00000649406.1:c.1209+6553_1209+6558delinsGAAAGC (CFTR)	ENSP00000497965.1:n.1209+6553_1209+6558delinsGAAAGC
ENST00000649781.1:c.1209+6553_1209+6558delinsGAAAGC (CFTR)	ENSP00000497203.1:n.1209+6553_1209+6558delinsGAAAGC
ENST00000673785.1:c.987_992delinsGAAAGC (CFTR)	ENSP00000501235.1:p.Glu329=
ENST00000003084.10:c.1230_1235delinsGAAAGC (CFTR)	ENSP00000003084.6:p.Glu410=
ENST00000426809.5:c.1140_1145delinsGAAAGC (CFTR)	ENSP00000389119.1:p.Glu380=
NM_000492.3:c.1230_1235delinsGAAAGC , LRG_663t1:c.1230_1235delinsGAAAGC (CFTR)	NP_000483.3:p.Glu410=
XM_011515751.1:c.1320_1325delinsGAAAGC (CFTR)	XP_011514053.1:p.Glu440=
XM_011515752.1:c.1320_1325delinsGAAAGC (CFTR)	XP_011514054.1:p.Glu440=
XM_011515753.1:c.987_992delinsGAAAGC (CFTR)	XP_011514055.1:p.Glu329=
XM_011515754.1:c.987_992delinsGAAAGC (CFTR)	XP_011514056.1:p.Glu329=
NR_149084.1:n.222-6127_222-6122delinsGCTTTC (CFTR-AS1)
NM_000492.4:c.1230_1235delinsGAAAGC (CFTR) MANE Select	NP_000483.3:p.Glu410=