Canonical Allele Identifier: CA1737404768

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642507_117642508delinsAC , CM000669.2:g.117642507_117642508delinsAC	GRCh38
NC_000007.13:g.117282561_117282562delinsAC , CM000669.1:g.117282561_117282562delinsAC	GRCh37
NC_000007.12:g.117069797_117069798delinsAC	NCBI36
NG_016465.4:g.181724_181725delinsAC , LRG_663:g.181724_181725delinsAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3587_3588delinsAC	ENSP00000497673.2:p.His1196=
ENST00000647978.2:c.*3501_*3502delinsAC	ENSP00000497658.1:n.*3501_*3502delinsAC
ENST00000649781.2:c.3604_3605delinsAC	ENSP00000497203.1:p.Thr1202=
ENST00000685018.2:c.3787_3788delinsAC	ENSP00000510194.2:p.Thr1263=
ENST00000687278.2:c.*440_*441delinsAC	ENSP00000509593.2:n.*440_*441delinsAC
ENST00000699585.1:c.3587_3588delinsAC	ENSP00000514456.1:p.His1196=
ENST00000699598.1:c.3787_3788delinsAC	ENSP00000514467.1:p.Thr1263=
ENST00000699599.1:c.3787_3788delinsAC	ENSP00000514468.1:p.Thr1263=
ENST00000699600.1:c.*448_*449delinsAC	ENSP00000514469.1:n.*448_*449delinsAC
ENST00000699601.1:c.*2162_*2163delinsAC	ENSP00000514470.1:n.*2162_*2163delinsAC
ENST00000699602.1:c.3781_3782delinsAC	ENSP00000514471.1:p.Thr1261=
ENST00000699604.1:c.*3611_*3612delinsAC	ENSP00000514472.1:n.*3611_*3612delinsAC
ENST00000699605.1:c.3361_3362delinsAC	ENSP00000514473.1:p.Thr1121=
ENST00000685018.1:c.535_536delinsAC	ENSP00000510194.1:p.Thr179=
ENST00000687278.1:c.1574_1575delinsAC	ENSP00000509593.1:n.1574_1575delinsAC
ENST00000689011.1:c.369_370delinsAC
ENST00000003084.11:c.3787_3788delinsAC MANE Select	ENSP00000003084.6:p.Thr1263=
ENST00000647720.1:c.1237_1238delinsAC
ENST00000649781.1:c.3604_3605delinsAC	ENSP00000497203.1:p.Thr1202=
ENST00000003084.10:c.3787_3788delinsAC	ENSP00000003084.6:p.Thr1263=
ENST00000426809.5:c.3697_3698delinsAC	ENSP00000389119.1:p.Thr1233=
NM_000492.3:c.3787_3788delinsAC , LRG_663t1:c.3787_3788delinsAC	NP_000483.3:p.Thr1263=
XM_011515751.1:c.3877_3878delinsAC	XP_011514053.1:p.Thr1293=
XM_011515752.1:c.3877_3878delinsAC	XP_011514054.1:p.Thr1293=
XM_011515753.1:c.3544_3545delinsAC	XP_011514055.1:p.Thr1182=
XM_011515754.1:c.3544_3545delinsAC	XP_011514056.1:p.Thr1182=
NM_000492.4:c.3787_3788delinsAC MANE Select	NP_000483.3:p.Thr1263=