Canonical Allele Identifier: CA1737398629

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627579_117627580delinsAC , CM000669.2:g.117627579_117627580delinsAC	GRCh38
NC_000007.13:g.117267633_117267634delinsAC , CM000669.1:g.117267633_117267634delinsAC	GRCh37
NC_000007.12:g.117054869_117054870delinsAC	NCBI36
NG_016465.4:g.166796_166797delinsAC , LRG_663:g.166796_166797delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3517+9_3517+10delinsAC	ENSP00000497673.2:n.3517+9_3517+10delinsAC
ENST00000647978.2:c.*3240_*3241delinsAC	ENSP00000497658.1:n.*3240_*3241delinsAC
ENST00000649781.2:c.3343_3344delinsAC	ENSP00000497203.1:p.Thr1115=
ENST00000685018.2:c.3526_3527delinsAC	ENSP00000510194.2:p.Thr1176=
ENST00000687278.2:c.*179_*180delinsAC	ENSP00000509593.2:n.*179_*180delinsAC
ENST00000699585.1:c.3517+9_3517+10delinsAC	ENSP00000514456.1:n.3517+9_3517+10delinsAC
ENST00000699598.1:c.3526_3527delinsAC	ENSP00000514467.1:p.Thr1176=
ENST00000699599.1:c.3526_3527delinsAC	ENSP00000514468.1:p.Thr1176=
ENST00000699600.1:c.*187_*188delinsAC	ENSP00000514469.1:n.*187_*188delinsAC
ENST00000699601.1:c.*1901_*1902delinsAC	ENSP00000514470.1:n.*1901_*1902delinsAC
ENST00000699602.1:c.3520_3521delinsAC	ENSP00000514471.1:p.Thr1174=
ENST00000699604.1:c.*3350_*3351delinsAC	ENSP00000514472.1:n.*3350_*3351delinsAC
ENST00000699605.1:c.3100_3101delinsAC	ENSP00000514473.1:p.Thr1034=
ENST00000685018.1:c.274_275delinsAC	ENSP00000510194.1:p.Thr92=
ENST00000687278.1:c.1313_1314delinsAC	ENSP00000509593.1:n.1313_1314delinsAC
ENST00000689011.1:c.108_109delinsAC
ENST00000003084.11:c.3526_3527delinsAC MANE Select	ENSP00000003084.6:p.Thr1176=
ENST00000647720.1:c.1167+9_1167+10delinsAC
ENST00000648260.1:c.2308_2309delinsAC	ENSP00000497957.1:p.Thr770=
ENST00000649406.1:c.3343_3344delinsAC	ENSP00000497965.1:p.Thr1115=
ENST00000649781.1:c.3343_3344delinsAC	ENSP00000497203.1:p.Thr1115=
ENST00000003084.10:c.3526_3527delinsAC	ENSP00000003084.6:p.Thr1176=
ENST00000426809.5:c.3436_3437delinsAC	ENSP00000389119.1:p.Thr1146=
ENST00000468795.1:c.351_352delinsAC
NM_000492.3:c.3526_3527delinsAC , LRG_663t1:c.3526_3527delinsAC	NP_000483.3:p.Thr1176=
XM_011515751.1:c.3616_3617delinsAC	XP_011514053.1:p.Thr1206=
XM_011515752.1:c.3616_3617delinsAC	XP_011514054.1:p.Thr1206=
XM_011515753.1:c.3283_3284delinsAC	XP_011514055.1:p.Thr1095=
XM_011515754.1:c.3283_3284delinsAC	XP_011514056.1:p.Thr1095=
NM_000492.4:c.3526_3527delinsAC MANE Select	NP_000483.3:p.Thr1176=