Canonical Allele Identifier: CA1737395200

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592457_117592458delinsCG , CM000669.2:g.117592457_117592458delinsCG	GRCh38
NC_000007.13:g.117232511_117232512delinsCG , CM000669.1:g.117232511_117232512delinsCG	GRCh37
NC_000007.12:g.117019747_117019748delinsCG	NCBI36
NG_016465.4:g.131674_131675delinsCG , LRG_663:g.131674_131675delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2290_2291delinsCG	ENSP00000497673.2:p.Arg764=
ENST00000647978.2:c.*2004_*2005delinsCG	ENSP00000497658.1:n.*2004_*2005delinsCG
ENST00000649781.2:c.2107_2108delinsCG	ENSP00000497203.1:p.Arg703=
ENST00000685018.2:c.2290_2291delinsCG	ENSP00000510194.2:p.Arg764=
ENST00000687278.2:c.2290_2291delinsCG	ENSP00000509593.2:p.Arg764=
ENST00000699585.1:c.2290_2291delinsCG	ENSP00000514456.1:p.Arg764=
ENST00000699598.1:c.2290_2291delinsCG	ENSP00000514467.1:p.Arg764=
ENST00000699599.1:c.2290_2291delinsCG	ENSP00000514468.1:p.Arg764=
ENST00000699600.1:c.2290_2291delinsCG	ENSP00000514469.1:p.Arg764=
ENST00000699601.1:c.*590_*591delinsCG	ENSP00000514470.1:n.*590_*591delinsCG
ENST00000699602.1:c.2290_2291delinsCG	ENSP00000514471.1:p.Arg764=
ENST00000699604.1:c.*2114_*2115delinsCG	ENSP00000514472.1:n.*2114_*2115delinsCG
ENST00000699605.1:c.1864_1865delinsCG	ENSP00000514473.1:p.Arg622=
ENST00000003084.11:c.2290_2291delinsCG MANE Select	ENSP00000003084.6:p.Arg764=
ENST00000647978.1:c.*2004_*2005delinsCG	ENSP00000497658.1:n.*2004_*2005delinsCG
ENST00000648260.1:c.1402-10369_1402-10368delinsCG	ENSP00000497957.1:n.1402-10369_1402-10368delinsCG
ENST00000649406.1:c.2107_2108delinsCG	ENSP00000497965.1:p.Arg703=
ENST00000649781.1:c.2107_2108delinsCG	ENSP00000497203.1:p.Arg703=
ENST00000003084.10:c.2290_2291delinsCG	ENSP00000003084.6:p.Arg764=
ENST00000426809.5:c.2200_2201delinsCG	ENSP00000389119.1:p.Arg734=
NM_000492.3:c.2290_2291delinsCG , LRG_663t1:c.2290_2291delinsCG	NP_000483.3:p.Arg764=
XM_011515751.1:c.2380_2381delinsCG	XP_011514053.1:p.Arg794=
XM_011515752.1:c.2380_2381delinsCG	XP_011514054.1:p.Arg794=
XM_011515753.1:c.2047_2048delinsCG	XP_011514055.1:p.Arg683=
XM_011515754.1:c.2047_2048delinsCG	XP_011514056.1:p.Arg683=
NM_000492.4:c.2290_2291delinsCG MANE Select	NP_000483.3:p.Arg764=