Canonical Allele Identifier: CA1737404680

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642333_117642334delinsAG , CM000669.2:g.117642333_117642334delinsAG	GRCh38
NC_000007.13:g.117282387_117282388delinsAG , CM000669.1:g.117282387_117282388delinsAG	GRCh37
NC_000007.12:g.117069623_117069624delinsAG	NCBI36
NG_016465.4:g.181550_181551delinsAG , LRG_663:g.181550_181551delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3518-105_3518-104delinsAG	ENSP00000497673.2:n.3518-105_3518-104delinsAG
ENST00000647978.2:c.*3432-105_*3432-104delinsAG	ENSP00000497658.1:n.*3432-105_*3432-104delinsAG
ENST00000649781.2:c.3535-105_3535-104delinsAG	ENSP00000497203.1:n.3535-105_3535-104delinsAG
ENST00000685018.2:c.3718-105_3718-104delinsAG	ENSP00000510194.2:n.3718-105_3718-104delinsAG
ENST00000687278.2:c.*371-105_*371-104delinsAG	ENSP00000509593.2:n.*371-105_*371-104delinsAG
ENST00000699585.1:c.3518-105_3518-104delinsAG	ENSP00000514456.1:n.3518-105_3518-104delinsAG
ENST00000699598.1:c.3718-105_3718-104delinsAG	ENSP00000514467.1:n.3718-105_3718-104delinsAG
ENST00000699599.1:c.3718-105_3718-104delinsAG	ENSP00000514468.1:n.3718-105_3718-104delinsAG
ENST00000699600.1:c.*379-105_*379-104delinsAG	ENSP00000514469.1:n.*379-105_*379-104delinsAG
ENST00000699601.1:c.*2093-105_*2093-104delinsAG	ENSP00000514470.1:n.*2093-105_*2093-104delinsAG
ENST00000699602.1:c.3712-105_3712-104delinsAG	ENSP00000514471.1:n.3712-105_3712-104delinsAG
ENST00000699604.1:c.*3542-105_*3542-104delinsAG	ENSP00000514472.1:n.*3542-105_*3542-104delinsAG
ENST00000699605.1:c.3292-105_3292-104delinsAG	ENSP00000514473.1:n.3292-105_3292-104delinsAG
ENST00000685018.1:c.466-105_466-104delinsAG	ENSP00000510194.1:n.466-105_466-104delinsAG
ENST00000687278.1:c.1505-105_1505-104delinsAG	ENSP00000509593.1:n.1505-105_1505-104delinsAG
ENST00000689011.1:c.300-105_300-104delinsAG
ENST00000003084.11:c.3718-105_3718-104delinsAG MANE Select	ENSP00000003084.6:n.3718-105_3718-104delinsAG
ENST00000647720.1:c.1168-105_1168-104delinsAG
ENST00000649781.1:c.3535-105_3535-104delinsAG	ENSP00000497203.1:n.3535-105_3535-104delinsAG
ENST00000003084.10:c.3718-105_3718-104delinsAG	ENSP00000003084.6:n.3718-105_3718-104delinsAG
ENST00000426809.5:c.3628-105_3628-104delinsAG	ENSP00000389119.1:n.3628-105_3628-104delinsAG
NM_000492.3:c.3718-105_3718-104delinsAG , LRG_663t1:c.3718-105_3718-104delinsAG	NP_000483.3:n.3718-105_3718-104delinsAG
XM_011515751.1:c.3808-105_3808-104delinsAG	XP_011514053.1:n.3808-105_3808-104delinsAG
XM_011515752.1:c.3808-105_3808-104delinsAG	XP_011514054.1:n.3808-105_3808-104delinsAG
XM_011515753.1:c.3475-105_3475-104delinsAG	XP_011514055.1:n.3475-105_3475-104delinsAG
XM_011515754.1:c.3475-105_3475-104delinsAG	XP_011514056.1:n.3475-105_3475-104delinsAG
NM_000492.4:c.3718-105_3718-104delinsAG MANE Select	NP_000483.3:n.3718-105_3718-104delinsAG