Canonical Allele Identifier: CA1737407258

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117666916_117666917delinsAG , CM000669.2:g.117666916_117666917delinsAG	GRCh38
NC_000007.13:g.117306970_117306971delinsAG , CM000669.1:g.117306970_117306971delinsAG	GRCh37
NC_000007.12:g.117094206_117094207delinsAG	NCBI36
NG_016465.4:g.206133_206134delinsAG , LRG_663:g.206133_206134delinsAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*460_*461delinsAG	ENSP00000497673.2:n.*460_*461delinsAG
ENST00000647978.2:c.*3965_*3966delinsAG	ENSP00000497658.1:n.*3965_*3966delinsAG
ENST00000649781.2:c.4068_4069delinsAG	ENSP00000497203.1:p.Glu1356=
ENST00000685018.2:c.*464_*465delinsAG	ENSP00000510194.2:n.*464_*465delinsAG
ENST00000687278.2:c.*896-686_*896-685delinsAG	ENSP00000509593.2:n.*896-686_*896-685delinsAG
ENST00000699585.1:c.*720_*721delinsAG	ENSP00000514456.1:n.*720_*721delinsAG
ENST00000699598.1:c.4244_4245delinsAG	ENSP00000514467.1:p.Lys1415=
ENST00000699599.1:c.*464_*465delinsAG	ENSP00000514468.1:n.*464_*465delinsAG
ENST00000699600.1:c.*904-686_*904-685delinsAG	ENSP00000514469.1:n.*904-686_*904-685delinsAG
ENST00000699601.1:c.*2626_*2627delinsAG	ENSP00000514470.1:n.*2626_*2627delinsAG
ENST00000699602.1:c.4245_4246delinsAG	ENSP00000514471.1:p.Glu1415=
ENST00000699604.1:c.*4075_*4076delinsAG	ENSP00000514472.1:n.*4075_*4076delinsAG
ENST00000699605.1:c.3825_3826delinsAG	ENSP00000514473.1:p.Glu1275=
ENST00000699606.1:n.3762_3763delinsAG
ENST00000685018.1:c.1115_1116delinsAG	ENSP00000510194.1:n.1115_1116delinsAG
ENST00000687278.1:c.2030-686_2030-685delinsAG	ENSP00000509593.1:n.2030-686_2030-685delinsAG
ENST00000689011.1:c.1093_1094delinsAG
ENST00000003084.11:c.4251_4252delinsAG MANE Select	ENSP00000003084.6:p.Glu1417=
ENST00000647720.1:c.1701_1702delinsAG
ENST00000649781.1:c.4068_4069delinsAG	ENSP00000497203.1:p.Glu1356=
ENST00000003084.10:c.4251_4252delinsAG	ENSP00000003084.6:p.Glu1417=
ENST00000426809.5:c.4161_4162delinsAG	ENSP00000389119.1:p.Glu1387=
ENST00000600166.1:c.368+1352_368+1353delinsAG
NM_000492.3:c.4251_4252delinsAG , LRG_663t1:c.4251_4252delinsAG	NP_000483.3:p.Glu1417=
XM_011515751.1:c.4341_4342delinsAG	XP_011514053.1:p.Glu1447=
XM_011515753.1:c.4008_4009delinsAG	XP_011514055.1:p.Glu1336=
XM_011515754.1:c.4008_4009delinsAG	XP_011514056.1:p.Glu1336=
NM_000492.4:c.4251_4252delinsAG MANE Select	NP_000483.3:p.Glu1417=