Canonical Allele Identifier: CA1737395728

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592637_117592638delinsAT , CM000669.2:g.117592637_117592638delinsAT	GRCh38
NC_000007.13:g.117232691_117232692delinsAT , CM000669.1:g.117232691_117232692delinsAT	GRCh37
NC_000007.12:g.117019927_117019928delinsAT	NCBI36
NG_016465.4:g.131854_131855delinsAT , LRG_663:g.131854_131855delinsAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2470_2471delinsAT	ENSP00000497673.2:p.Ile824=
ENST00000647978.2:c.*2184_*2185delinsAT	ENSP00000497658.1:n.*2184_*2185delinsAT
ENST00000649781.2:c.2287_2288delinsAT	ENSP00000497203.1:p.Ile763=
ENST00000685018.2:c.2470_2471delinsAT	ENSP00000510194.2:p.Ile824=
ENST00000687278.2:c.2470_2471delinsAT	ENSP00000509593.2:p.Ile824=
ENST00000699585.1:c.2470_2471delinsAT	ENSP00000514456.1:p.Ile824=
ENST00000699598.1:c.2470_2471delinsAT	ENSP00000514467.1:p.Ile824=
ENST00000699599.1:c.2470_2471delinsAT	ENSP00000514468.1:p.Ile824=
ENST00000699600.1:c.2470_2471delinsAT	ENSP00000514469.1:p.Ile824=
ENST00000699601.1:c.*770_*771delinsAT	ENSP00000514470.1:n.*770_*771delinsAT
ENST00000699602.1:c.2470_2471delinsAT	ENSP00000514471.1:p.Ile824=
ENST00000699604.1:c.*2294_*2295delinsAT	ENSP00000514472.1:n.*2294_*2295delinsAT
ENST00000699605.1:c.2044_2045delinsAT	ENSP00000514473.1:p.Ile682=
ENST00000687278.1:c.61_62delinsAT	ENSP00000509593.1:p.Ile21=
ENST00000003084.11:c.2470_2471delinsAT MANE Select	ENSP00000003084.6:p.Ile824=
ENST00000647720.1:c.120_121delinsAT
ENST00000647978.1:c.*2184_*2185delinsAT	ENSP00000497658.1:n.*2184_*2185delinsAT
ENST00000648260.1:c.1402-10189_1402-10188delinsAT	ENSP00000497957.1:n.1402-10189_1402-10188...
ENST00000649406.1:c.2287_2288delinsAT	ENSP00000497965.1:p.Ile763=
ENST00000649781.1:c.2287_2288delinsAT	ENSP00000497203.1:p.Ile763=
ENST00000003084.10:c.2470_2471delinsAT	ENSP00000003084.6:p.Ile824=
ENST00000426809.5:c.2380_2381delinsAT	ENSP00000389119.1:p.Ile794=
NM_000492.3:c.2470_2471delinsAT , LRG_663t1:c.2470_2471delinsAT	NP_000483.3:p.Ile824=
XM_011515751.1:c.2560_2561delinsAT	XP_011514053.1:p.Ile854=
XM_011515752.1:c.2560_2561delinsAT	XP_011514054.1:p.Ile854=
XM_011515753.1:c.2227_2228delinsAT	XP_011514055.1:p.Ile743=
XM_011515754.1:c.2227_2228delinsAT	XP_011514056.1:p.Ile743=
NM_000492.4:c.2470_2471delinsAT MANE Select	NP_000483.3:p.Ile824=