Canonical Allele Identifier: CA1737392388

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117614955_117614956delinsGA , CM000669.2:g.117614955_117614956delinsGA	GRCh38
NC_000007.13:g.117255009_117255010delinsGA , CM000669.1:g.117255009_117255010delinsGA	GRCh37
NC_000007.12:g.117042245_117042246delinsGA	NCBI36
NG_016465.4:g.154172_154173delinsGA , LRG_663:g.154172_154173delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3468+242_3468+243delinsGA	ENSP00000497673.2:n.3468+242_3468+243delinsGA
ENST00000647978.2:c.*3182+242_*3182+243delinsGA	ENSP00000497658.1:n.*3182+242_*3182+243delinsGA
ENST00000649781.2:c.3285+242_3285+243delinsGA	ENSP00000497203.1:n.3285+242_3285+243delinsGA
ENST00000685018.2:c.3468+242_3468+243delinsGA	ENSP00000510194.2:n.3468+242_3468+243delinsGA
ENST00000687278.2:c.3468+242_3468+243delinsGA	ENSP00000509593.2:n.3468+242_3468+243delinsGA
ENST00000699585.1:c.3468+242_3468+243delinsGA	ENSP00000514456.1:n.3468+242_3468+243delinsGA
ENST00000699598.1:c.3468+242_3468+243delinsGA	ENSP00000514467.1:n.3468+242_3468+243delinsGA
ENST00000699599.1:c.3468+242_3468+243delinsGA	ENSP00000514468.1:n.3468+242_3468+243delinsGA
ENST00000699600.1:c.3468+242_3468+243delinsGA	ENSP00000514469.1:n.3468+242_3468+243delinsGA
ENST00000699601.1:c.*1843+242_*1843+243delinsGA	ENSP00000514470.1:n.*1843+242_*1843+243delinsGA
ENST00000699602.1:c.3462+242_3462+243delinsGA	ENSP00000514471.1:n.3462+242_3462+243delinsGA
ENST00000699604.1:c.*3292+242_*3292+243delinsGA	ENSP00000514472.1:n.*3292+242_*3292+243delinsGA
ENST00000699605.1:c.3042+242_3042+243delinsGA	ENSP00000514473.1:n.3042+242_3042+243delinsGA
ENST00000685018.1:c.216+242_216+243delinsGA	ENSP00000510194.1:n.216+242_216+243delinsGA
ENST00000687278.1:c.1059+242_1059+243delinsGA	ENSP00000509593.1:n.1059+242_1059+243delinsGA
ENST00000689011.1:c.50+242_50+243delinsGA
ENST00000003084.11:c.3468+242_3468+243delinsGA MANE Select	ENSP00000003084.6:n.3468+242_3468+243delinsGA
ENST00000647720.1:c.1118+242_1118+243delinsGA
ENST00000648260.1:c.2250+242_2250+243delinsGA	ENSP00000497957.1:n.2250+242_2250+243delinsGA
ENST00000649406.1:c.3285+242_3285+243delinsGA	ENSP00000497965.1:n.3285+242_3285+243delinsGA
ENST00000649781.1:c.3285+242_3285+243delinsGA	ENSP00000497203.1:n.3285+242_3285+243delinsGA
ENST00000003084.10:c.3468+242_3468+243delinsGA	ENSP00000003084.6:n.3468+242_3468+243delinsGA
ENST00000426809.5:c.3378+242_3378+243delinsGA	ENSP00000389119.1:n.3378+242_3378+243delinsGA
ENST00000468795.1:c.293+242_293+243delinsGA
NM_000492.3:c.3468+242_3468+243delinsGA , LRG_663t1:c.3468+242_3468+243delinsGA	NP_000483.3:n.3468+242_3468+243delinsGA
XM_011515751.1:c.3558+242_3558+243delinsGA	XP_011514053.1:n.3558+242_3558+243delinsGA
XM_011515752.1:c.3558+242_3558+243delinsGA	XP_011514054.1:n.3558+242_3558+243delinsGA
XM_011515753.1:c.3225+242_3225+243delinsGA	XP_011514055.1:n.3225+242_3225+243delinsGA
XM_011515754.1:c.3225+242_3225+243delinsGA	XP_011514056.1:n.3225+242_3225+243delinsGA
NM_000492.4:c.3468+242_3468+243delinsGA MANE Select	NP_000483.3:n.3468+242_3468+243delinsGA