Canonical Allele Identifier: CA2831039224

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642465_117642470delinsC , CM000669.2:g.117642465_117642470delinsC	GRCh38
NC_000007.13:g.117282519_117282524delinsC , CM000669.1:g.117282519_117282524delinsC	GRCh37
NC_000007.12:g.117069755_117069760delinsC	NCBI36
NG_016465.4:g.181682_181687delinsC , LRG_663:g.181682_181687delinsC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3545_3550delinsC	ENSP00000497673.2:p.Arg1182ThrfsTer9
ENST00000647978.2:c.*3459_*3464delinsC	ENSP00000497658.1:n.*3459_*3464delinsC
ENST00000649781.2:c.3562_3567delinsC	ENSP00000497203.1:p.Gly1188GlnfsTer14
ENST00000685018.2:c.3745_3750delinsC	ENSP00000510194.2:p.Gly1249GlnfsTer14
ENST00000687278.2:c.*398_*403delinsC	ENSP00000509593.2:n.*398_*403delinsC
ENST00000699585.1:c.3545_3550delinsC	ENSP00000514456.1:p.Arg1182ThrfsTer9
ENST00000699598.1:c.3745_3750delinsC	ENSP00000514467.1:p.Gly1249GlnfsTer14
ENST00000699599.1:c.3745_3750delinsC	ENSP00000514468.1:p.Gly1249GlnfsTer14
ENST00000699600.1:c.*406_*411delinsC	ENSP00000514469.1:n.*406_*411delinsC
ENST00000699601.1:c.*2120_*2125delinsC	ENSP00000514470.1:n.*2120_*2125delinsC
ENST00000699602.1:c.3739_3744delinsC	ENSP00000514471.1:p.Gly1247GlnfsTer14
ENST00000699604.1:c.*3569_*3574delinsC	ENSP00000514472.1:n.*3569_*3574delinsC
ENST00000699605.1:c.3319_3324delinsC	ENSP00000514473.1:p.Gly1107GlnfsTer14
ENST00000685018.1:c.493_498delinsC	ENSP00000510194.1:p.Gly165GlnfsTer14
ENST00000687278.1:c.1532_1537delinsC	ENSP00000509593.1:n.1532_1537delinsC
ENST00000689011.1:c.327_332delinsC
ENST00000003084.11:c.3745_3750delinsC MANE Select	ENSP00000003084.6:p.Gly1249GlnfsTer14
ENST00000647720.1:c.1195_1200delinsC
ENST00000649781.1:c.3562_3567delinsC	ENSP00000497203.1:p.Gly1188GlnfsTer14
ENST00000003084.10:c.3745_3750delinsC	ENSP00000003084.6:p.Gly1249GlnfsTer14
ENST00000426809.5:c.3655_3660delinsC	ENSP00000389119.1:p.Gly1219GlnfsTer14
NM_000492.3:c.3745_3750delinsC , LRG_663t1:c.3745_3750delinsC	NP_000483.3:p.Gly1249GlnfsTer14
XM_011515751.1:c.3835_3840delinsC	XP_011514053.1:p.Gly1279GlnfsTer14
XM_011515752.1:c.3835_3840delinsC	XP_011514054.1:p.Gly1279GlnfsTer14
XM_011515753.1:c.3502_3507delinsC	XP_011514055.1:p.Gly1168GlnfsTer14
XM_011515754.1:c.3502_3507delinsC	XP_011514056.1:p.Gly1168GlnfsTer14
NM_000492.4:c.3745_3750delinsC MANE Select	NP_000483.3:p.Gly1249GlnfsTer14