Canonical Allele Identifier: CA2535721287

Gene: CFTR CFTR-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117559676_117559677insGAGAACAGAATGAAATTCTTCCAC , CM000669.2:g.117559676_117559677insGAGAACAGAATGAAATTCTTCCAC	GRCh38
NC_000007.13:g.117199730_117199731insGAGAACAGAATGAAATTCTTCCAC , CM000669.1:g.117199730_117199731insGAGAACAGAATGAAATTCTTCCAC	GRCh37
NC_000007.12:g.116986966_116986967insGAGAACAGAATGAAATTCTTCCAC	NCBI36
NG_016465.4:g.98893_98894insGAGAACAGAATGAAATTCTTCCAC , LRG_663:g.98893_98894insGAGAACAGAATGAAATTCTTCCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1584+21_1584+22insGAGAACAGAATGAAATTCTTCCAC (CFTR)	ENSP00000497673.2:n.1584+21_1584+22insGAGAACAGAATGAAATTCTTCCA...
ENST00000647978.2:c.*1298+21_*1298+22insGAGAACAGAATGAAATTCTTCCAC (CFTR)	ENSP00000497658.1:n.*1298+21_*1298+22insGAGAACAGAATGAAATTCTTC...
ENST00000649781.2:c.1401+21_1401+22insGAGAACAGAATGAAATTCTTCCAC (CFTR)	ENSP00000497203.1:n.1401+21_1401+22insGAGAACAGAATGAAATTCTTCCA...
ENST00000685018.2:c.1584+21_1584+22insGAGAACAGAATGAAATTCTTCCAC (CFTR)	ENSP00000510194.2:n.1584+21_1584+22insGAGAACAGAATGAAATTCTTCCA...
ENST00000687278.2:c.1584+21_1584+22insGAGAACAGAATGAAATTCTTCCAC (CFTR)	ENSP00000509593.2:n.1584+21_1584+22insGAGAACAGAATGAAATTCTTCCA...
ENST00000699585.1:c.1584+21_1584+22insGAGAACAGAATGAAATTCTTCCAC (CFTR)	ENSP00000514456.1:n.1584+21_1584+22insGAGAACAGAATGAAATTCTTCCA...
ENST00000699596.1:c.1605_1606insGAGAACAGAATGAAATTCTTCCAC (CFTR)	ENSP00000514465.1:p.Thr535_Phe536insGluAsnArgMetLysPhePheHis
ENST00000699597.1:c.*163_*164insGAGAACAGAATGAAATTCTTCCAC (CFTR)	ENSP00000514466.1:n.*163_*164insGAGAACAGAATGAAATTCTTCCAC
ENST00000699598.1:c.1584+21_1584+22insGAGAACAGAATGAAATTCTTCCAC (CFTR)	ENSP00000514467.1:n.1584+21_1584+22insGAGAACAGAATGAAATTCTTCCA...
ENST00000699599.1:c.1584+21_1584+22insGAGAACAGAATGAAATTCTTCCAC (CFTR)	ENSP00000514468.1:n.1584+21_1584+22insGAGAACAGAATGAAATTCTTCCA...
ENST00000699600.1:c.1584+21_1584+22insGAGAACAGAATGAAATTCTTCCAC (CFTR)	ENSP00000514469.1:n.1584+21_1584+22insGAGAACAGAATGAAATTCTTCCA...
ENST00000699601.1:c.1584+21_1584+22insGAGAACAGAATGAAATTCTTCCAC (CFTR)	ENSP00000514470.1:n.1584+21_1584+22insGAGAACAGAATGAAATTCTTCCA...
ENST00000699602.1:c.1584+21_1584+22insGAGAACAGAATGAAATTCTTCCAC (CFTR)	ENSP00000514471.1:n.1584+21_1584+22insGAGAACAGAATGAAATTCTTCCA...
ENST00000699604.1:c.*1408+21_*1408+22insGAGAACAGAATGAAATTCTTCCAC (CFTR)	ENSP00000514472.1:n.*1408+21_*1408+22insGAGAACAGAATGAAATTCTTC...
ENST00000699605.1:c.1158+21_1158+22insGAGAACAGAATGAAATTCTTCCAC (CFTR)	ENSP00000514473.1:n.1158+21_1158+22insGAGAACAGAATGAAATTCTTCCA...
ENST00000003084.11:c.1584+21_1584+22insGAGAACAGAATGAAATTCTTCCAC (CFTR) MANE Select	ENSP00000003084.6:n.1584+21_1584+22insGAGAACAGAATGAAATTCTTCCA...
ENST00000647978.1:c.*1298+21_*1298+22insGAGAACAGAATGAAATTCTTCCAC (CFTR)	ENSP00000497658.1:n.*1298+21_*1298+22insGAGAACAGAATGAAATTCTTC...
ENST00000648260.1:c.1401+21_1401+22insGAGAACAGAATGAAATTCTTCCAC (CFTR)	ENSP00000497957.1:n.1401+21_1401+22insGAGAACAGAATGAAATTCTTCCA...
ENST00000649406.1:c.1401+21_1401+22insGAGAACAGAATGAAATTCTTCCAC (CFTR)	ENSP00000497965.1:n.1401+21_1401+22insGAGAACAGAATGAAATTCTTCCA...
ENST00000649781.1:c.1401+21_1401+22insGAGAACAGAATGAAATTCTTCCAC (CFTR)	ENSP00000497203.1:n.1401+21_1401+22insGAGAACAGAATGAAATTCTTCCA...
ENST00000003084.10:c.1584+21_1584+22insGAGAACAGAATGAAATTCTTCCAC (CFTR)	ENSP00000003084.6:n.1584+21_1584+22insGAGAACAGAATGAAATTCTTCCA...
ENST00000426809.5:c.1494+21_1494+22insGAGAACAGAATGAAATTCTTCCAC (CFTR)	ENSP00000389119.1:n.1494+21_1494+22insGAGAACAGAATGAAATTCTTCCA...
ENST00000472848.1:n.18+21_18+22insGAGAACAGAATGAAATTCTTCCAC (CFTR)
NM_000492.3:c.1584+21_1584+22insGAGAACAGAATGAAATTCTTCCAC , LRG_663t1:c.1584+21_1584+22insGAGAACAGAATGAAATTCTTCCAC (CFTR)	NP_000483.3:n.1584+21_1584+22insGAGAACAGAATGAAATTCTTCCAC
XM_011515751.1:c.1674+21_1674+22insGAGAACAGAATGAAATTCTTCCAC (CFTR)	XP_011514053.1:n.1674+21_1674+22insGAGAACAGAATGAAATTCTTCCAC
XM_011515752.1:c.1674+21_1674+22insGAGAACAGAATGAAATTCTTCCAC (CFTR)	XP_011514054.1:n.1674+21_1674+22insGAGAACAGAATGAAATTCTTCCAC
XM_011515753.1:c.1341+21_1341+22insGAGAACAGAATGAAATTCTTCCAC (CFTR)	XP_011514055.1:n.1341+21_1341+22insGAGAACAGAATGAAATTCTTCCAC
XM_011515754.1:c.1341+21_1341+22insGAGAACAGAATGAAATTCTTCCAC (CFTR)	XP_011514056.1:n.1341+21_1341+22insGAGAACAGAATGAAATTCTTCCAC
NR_149084.1:n.221+1056_221+1057insGTGGAAGAATTTCATTCTGTTCTC (CFTR-AS1)
NM_000492.4:c.1584+21_1584+22insGAGAACAGAATGAAATTCTTCCAC (CFTR) MANE Select	NP_000483.3:n.1584+21_1584+22insGAGAACAGAATGAAATTCTTCCAC