Canonical Allele Identifier: CA2519538514

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603202_117603203insGTGGA , CM000669.2:g.117603202_117603203insGTGGA	GRCh38
NC_000007.13:g.117243256_117243257insGTGGA , CM000669.1:g.117243256_117243257insGTGGA	GRCh37
NC_000007.12:g.117030492_117030493insGTGGA	NCBI36
NG_016465.4:g.142419_142420insGTGGA , LRG_663:g.142419_142420insGTGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2658-330_2658-329insGTGGA	ENSP00000497673.2:n.2658-330_2658-329insGTGGA
ENST00000647978.2:c.*2372-330_*2372-329insGTGGA	ENSP00000497658.1:n.*2372-330_*2372-329insGTGGA
ENST00000649781.2:c.2475-330_2475-329insGTGGA	ENSP00000497203.1:n.2475-330_2475-329insGTGGA
ENST00000685018.2:c.2658-330_2658-329insGTGGA	ENSP00000510194.2:n.2658-330_2658-329insGTGGA
ENST00000687278.2:c.2658-330_2658-329insGTGGA	ENSP00000509593.2:n.2658-330_2658-329insGTGGA
ENST00000699585.1:c.2658-330_2658-329insGTGGA	ENSP00000514456.1:n.2658-330_2658-329insGTGGA
ENST00000699598.1:c.2658-330_2658-329insGTGGA	ENSP00000514467.1:n.2658-330_2658-329insGTGGA
ENST00000699599.1:c.2658-330_2658-329insGTGGA	ENSP00000514468.1:n.2658-330_2658-329insGTGGA
ENST00000699600.1:c.2658-330_2658-329insGTGGA	ENSP00000514469.1:n.2658-330_2658-329insGTGGA
ENST00000699601.1:c.*958-330_*958-329insGTGGA	ENSP00000514470.1:n.*958-330_*958-329insGTGGA
ENST00000699602.1:c.2658-330_2658-329insGTGGA	ENSP00000514471.1:n.2658-330_2658-329insGTGGA
ENST00000699604.1:c.*2482-330_*2482-329insGTGGA	ENSP00000514472.1:n.*2482-330_*2482-329insGTGGA
ENST00000699605.1:c.2232-330_2232-329insGTGGA	ENSP00000514473.1:n.2232-330_2232-329insGTGGA
ENST00000687278.1:c.249-330_249-329insGTGGA	ENSP00000509593.1:n.249-330_249-329insGTGGA
ENST00000003084.11:c.2658-330_2658-329insGTGGA MANE Select	ENSP00000003084.6:n.2658-330_2658-329insGTGGA
ENST00000647720.1:c.308-330_308-329insGTGGA
ENST00000648260.1:c.1440-330_1440-329insGTGGA	ENSP00000497957.1:n.1440-330_1440-329insGTGGA
ENST00000649406.1:c.2475-330_2475-329insGTGGA	ENSP00000497965.1:n.2475-330_2475-329insGTGGA
ENST00000649781.1:c.2475-330_2475-329insGTGGA	ENSP00000497203.1:n.2475-330_2475-329insGTGGA
ENST00000003084.10:c.2658-330_2658-329insGTGGA	ENSP00000003084.6:n.2658-330_2658-329insGTGGA
ENST00000426809.5:c.2568-330_2568-329insGTGGA	ENSP00000389119.1:n.2568-330_2568-329insGTGGA
NM_000492.3:c.2658-330_2658-329insGTGGA , LRG_663t1:c.2658-330_2658-329insGTGGA	NP_000483.3:n.2658-330_2658-329insGTGGA
XM_011515751.1:c.2748-330_2748-329insGTGGA	XP_011514053.1:n.2748-330_2748-329insGTGGA
XM_011515752.1:c.2748-330_2748-329insGTGGA	XP_011514054.1:n.2748-330_2748-329insGTGGA
XM_011515753.1:c.2415-330_2415-329insGTGGA	XP_011514055.1:n.2415-330_2415-329insGTGGA
XM_011515754.1:c.2415-330_2415-329insGTGGA	XP_011514056.1:n.2415-330_2415-329insGTGGA
NM_000492.4:c.2658-330_2658-329insGTGGA MANE Select	NP_000483.3:n.2658-330_2658-329insGTGGA