Canonical Allele Identifier: CA1737395673

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592618_117592619delinsCT , CM000669.2:g.117592618_117592619delinsCT	GRCh38
NC_000007.13:g.117232672_117232673delinsCT , CM000669.1:g.117232672_117232673delinsCT	GRCh37
NC_000007.12:g.117019908_117019909delinsCT	NCBI36
NG_016465.4:g.131835_131836delinsCT , LRG_663:g.131835_131836delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2451_2452delinsCT	ENSP00000497673.2:p.Gly817=
ENST00000647978.2:c.*2165_*2166delinsCT	ENSP00000497658.1:n.*2165_*2166delinsCT
ENST00000649781.2:c.2268_2269delinsCT	ENSP00000497203.1:p.Gly756=
ENST00000685018.2:c.2451_2452delinsCT	ENSP00000510194.2:p.Gly817=
ENST00000687278.2:c.2451_2452delinsCT	ENSP00000509593.2:p.Gly817=
ENST00000699585.1:c.2451_2452delinsCT	ENSP00000514456.1:p.Gly817=
ENST00000699598.1:c.2451_2452delinsCT	ENSP00000514467.1:p.Gly817=
ENST00000699599.1:c.2451_2452delinsCT	ENSP00000514468.1:p.Gly817=
ENST00000699600.1:c.2451_2452delinsCT	ENSP00000514469.1:p.Gly817=
ENST00000699601.1:c.*751_*752delinsCT	ENSP00000514470.1:n.*751_*752delinsCT
ENST00000699602.1:c.2451_2452delinsCT	ENSP00000514471.1:p.Gly817=
ENST00000699604.1:c.*2275_*2276delinsCT	ENSP00000514472.1:n.*2275_*2276delinsCT
ENST00000699605.1:c.2025_2026delinsCT	ENSP00000514473.1:p.Gly675=
ENST00000687278.1:c.42_43delinsCT	ENSP00000509593.1:p.Gly14=
ENST00000003084.11:c.2451_2452delinsCT MANE Select	ENSP00000003084.6:p.Gly817=
ENST00000647720.1:c.101_102delinsCT
ENST00000647978.1:c.*2165_*2166delinsCT	ENSP00000497658.1:n.*2165_*2166delinsCT
ENST00000648260.1:c.1402-10208_1402-10207delinsCT	ENSP00000497957.1:n.1402-10208_1402-10207delinsCT
ENST00000649406.1:c.2268_2269delinsCT	ENSP00000497965.1:p.Gly756=
ENST00000649781.1:c.2268_2269delinsCT	ENSP00000497203.1:p.Gly756=
ENST00000003084.10:c.2451_2452delinsCT	ENSP00000003084.6:p.Gly817=
ENST00000426809.5:c.2361_2362delinsCT	ENSP00000389119.1:p.Gly787=
NM_000492.3:c.2451_2452delinsCT , LRG_663t1:c.2451_2452delinsCT	NP_000483.3:p.Gly817=
XM_011515751.1:c.2541_2542delinsCT	XP_011514053.1:p.Gly847=
XM_011515752.1:c.2541_2542delinsCT	XP_011514054.1:p.Gly847=
XM_011515753.1:c.2208_2209delinsCT	XP_011514055.1:p.Gly736=
XM_011515754.1:c.2208_2209delinsCT	XP_011514056.1:p.Gly736=
NM_000492.4:c.2451_2452delinsCT MANE Select	NP_000483.3:p.Gly817=