Canonical Allele Identifier: CA164967774

Gene: CFTR CFTR-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117559592_117559593delinsTC , CM000669.2:g.117559592_117559593delinsTC	GRCh38
NC_000007.13:g.117199646_117199647delinsTC , CM000669.1:g.117199646_117199647delinsTC	GRCh37
NC_000007.12:g.116986882_116986883delinsTC	NCBI36
NG_016465.4:g.98809_98810delinsTC , LRG_663:g.98809_98810delinsTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.1521_1522delinsTC (CFTR)	ENSP00000497673.2:p.Phe508Leu
ENST00000647978.2:c.*1235_*1236delinsTC (CFTR)	ENSP00000497658.1:n.*1235_*1236delinsTC
ENST00000649781.2:c.1338_1339delinsTC (CFTR)	ENSP00000497203.1:p.Phe447Leu
ENST00000685018.2:c.1521_1522delinsTC (CFTR)	ENSP00000510194.2:p.Phe508Leu
ENST00000687278.2:c.1521_1522delinsTC (CFTR)	ENSP00000509593.2:p.Phe508Leu
ENST00000699585.1:c.1521_1522delinsTC (CFTR)	ENSP00000514456.1:p.Phe508Leu
ENST00000699596.1:c.1521_1522delinsTC (CFTR)	ENSP00000514465.1:p.Phe508Leu
ENST00000699597.1:c.*79_*80delinsTC (CFTR)	ENSP00000514466.1:n.*79_*80delinsTC
ENST00000699598.1:c.1521_1522delinsTC (CFTR)	ENSP00000514467.1:p.Phe508Leu
ENST00000699599.1:c.1521_1522delinsTC (CFTR)	ENSP00000514468.1:p.Phe508Leu
ENST00000699600.1:c.1521_1522delinsTC (CFTR)	ENSP00000514469.1:p.Phe508Leu
ENST00000699601.1:c.1521_1522delinsTC (CFTR)	ENSP00000514470.1:p.Phe508Leu
ENST00000699602.1:c.1521_1522delinsTC (CFTR)	ENSP00000514471.1:p.Phe508Leu
ENST00000699604.1:c.*1345_*1346delinsTC (CFTR)	ENSP00000514472.1:n.*1345_*1346delinsTC
ENST00000699605.1:c.1095_1096delinsTC (CFTR)	ENSP00000514473.1:p.Phe366Leu
ENST00000003084.11:c.1521_1522delinsTC (CFTR) MANE Select	ENSP00000003084.6:p.Phe508Leu
ENST00000647978.1:c.*1235_*1236delinsTC (CFTR)	ENSP00000497658.1:n.*1235_*1236delinsTC
ENST00000648260.1:c.1338_1339delinsTC (CFTR)	ENSP00000497957.1:p.Phe447Leu
ENST00000649406.1:c.1338_1339delinsTC (CFTR)	ENSP00000497965.1:p.Phe447Leu
ENST00000649781.1:c.1338_1339delinsTC (CFTR)	ENSP00000497203.1:p.Phe447Leu
ENST00000003084.10:c.1521_1522delinsTC (CFTR)	ENSP00000003084.6:p.Phe508Leu
ENST00000426809.5:c.1431_1432delinsTC (CFTR)	ENSP00000389119.1:p.Phe478Leu
NM_000492.3:c.1521_1522delinsTC , LRG_663t1:c.1521_1522delinsTC (CFTR)	NP_000483.3:p.Phe508Leu
XM_011515751.1:c.1611_1612delinsTC (CFTR)	XP_011514053.1:p.Phe538Leu
XM_011515752.1:c.1611_1612delinsTC (CFTR)	XP_011514054.1:p.Phe538Leu
XM_011515753.1:c.1278_1279delinsTC (CFTR)	XP_011514055.1:p.Phe427Leu
XM_011515754.1:c.1278_1279delinsTC (CFTR)	XP_011514056.1:p.Phe427Leu
NR_149084.1:n.221+1140_221+1141delinsGA (CFTR-AS1)
NM_000492.4:c.1521_1522delinsTC (CFTR) MANE Select	NP_000483.3:p.Phe508Leu