Canonical Allele Identifier: CA1737395083

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592414_117592422delinsGCCTCGCAT , CM000669.2:g.117592414_117592422delinsGCCTCGCAT	GRCh38
NC_000007.13:g.117232468_117232476delinsGCCTCGCAT , CM000669.1:g.117232468_117232476delinsGCCTCGCAT	GRCh37
NC_000007.12:g.117019704_117019712delinsGCCTCGCAT	NCBI36
NG_016465.4:g.131631_131639delinsGCCTCGCAT , LRG_663:g.131631_131639delinsGCCTCGCAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2247_2255delinsGCCTCGCAT	ENSP00000497673.2:p.Leu749=
ENST00000647978.2:c.*1961_*1969delinsGCCTCGCAT	ENSP00000497658.1:n.*1961_*1969delinsGCCT...
ENST00000649781.2:c.2064_2072delinsGCCTCGCAT	ENSP00000497203.1:p.Leu688=
ENST00000685018.2:c.2247_2255delinsGCCTCGCAT	ENSP00000510194.2:p.Leu749=
ENST00000687278.2:c.2247_2255delinsGCCTCGCAT	ENSP00000509593.2:p.Leu749=
ENST00000699585.1:c.2247_2255delinsGCCTCGCAT	ENSP00000514456.1:p.Leu749=
ENST00000699598.1:c.2247_2255delinsGCCTCGCAT	ENSP00000514467.1:p.Leu749=
ENST00000699599.1:c.2247_2255delinsGCCTCGCAT	ENSP00000514468.1:p.Leu749=
ENST00000699600.1:c.2247_2255delinsGCCTCGCAT	ENSP00000514469.1:p.Leu749=
ENST00000699601.1:c.*547_*555delinsGCCTCGCAT	ENSP00000514470.1:n.*547_*555delinsGCCTCG...
ENST00000699602.1:c.2247_2255delinsGCCTCGCAT	ENSP00000514471.1:p.Leu749=
ENST00000699604.1:c.*2071_*2079delinsGCCTCGCAT	ENSP00000514472.1:n.*2071_*2079delinsGCCT...
ENST00000699605.1:c.1821_1829delinsGCCTCGCAT	ENSP00000514473.1:p.Leu607=
ENST00000003084.11:c.2247_2255delinsGCCTCGCAT MANE Select	ENSP00000003084.6:p.Leu749=
ENST00000647978.1:c.*1961_*1969delinsGCCTCGCAT	ENSP00000497658.1:n.*1961_*1969delinsGCCT...
ENST00000648260.1:c.1402-10412_1402-10404delinsGCCTCGCAT	ENSP00000497957.1:n.1402-10412_1402-10404...
ENST00000649406.1:c.2064_2072delinsGCCTCGCAT	ENSP00000497965.1:p.Leu688=
ENST00000649781.1:c.2064_2072delinsGCCTCGCAT	ENSP00000497203.1:p.Leu688=
ENST00000003084.10:c.2247_2255delinsGCCTCGCAT	ENSP00000003084.6:p.Leu749=
ENST00000426809.5:c.2157_2165delinsGCCTCGCAT	ENSP00000389119.1:p.Leu719=
NM_000492.3:c.2247_2255delinsGCCTCGCAT , LRG_663t1:c.2247_2255delinsGCCTCGCAT	NP_000483.3:p.Leu749=
XM_011515751.1:c.2337_2345delinsGCCTCGCAT	XP_011514053.1:p.Leu779=
XM_011515752.1:c.2337_2345delinsGCCTCGCAT	XP_011514054.1:p.Leu779=
XM_011515753.1:c.2004_2012delinsGCCTCGCAT	XP_011514055.1:p.Leu668=
XM_011515754.1:c.2004_2012delinsGCCTCGCAT	XP_011514056.1:p.Leu668=
NM_000492.4:c.2247_2255delinsGCCTCGCAT MANE Select	NP_000483.3:p.Leu749=