Canonical Allele Identifier: CA1737395658

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592615_117592616delinsTG , CM000669.2:g.117592615_117592616delinsTG	GRCh38
NC_000007.13:g.117232669_117232670delinsTG , CM000669.1:g.117232669_117232670delinsTG	GRCh37
NC_000007.12:g.117019905_117019906delinsTG	NCBI36
NG_016465.4:g.131832_131833delinsTG , LRG_663:g.131832_131833delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2448_2449delinsTG	ENSP00000497673.2:p.Thr816=
ENST00000647978.2:c.*2162_*2163delinsTG	ENSP00000497658.1:n.*2162_*2163delinsTG
ENST00000649781.2:c.2265_2266delinsTG	ENSP00000497203.1:p.Thr755=
ENST00000685018.2:c.2448_2449delinsTG	ENSP00000510194.2:p.Thr816=
ENST00000687278.2:c.2448_2449delinsTG	ENSP00000509593.2:p.Thr816=
ENST00000699585.1:c.2448_2449delinsTG	ENSP00000514456.1:p.Thr816=
ENST00000699598.1:c.2448_2449delinsTG	ENSP00000514467.1:p.Thr816=
ENST00000699599.1:c.2448_2449delinsTG	ENSP00000514468.1:p.Thr816=
ENST00000699600.1:c.2448_2449delinsTG	ENSP00000514469.1:p.Thr816=
ENST00000699601.1:c.*748_*749delinsTG	ENSP00000514470.1:n.*748_*749delinsTG
ENST00000699602.1:c.2448_2449delinsTG	ENSP00000514471.1:p.Thr816=
ENST00000699604.1:c.*2272_*2273delinsTG	ENSP00000514472.1:n.*2272_*2273delinsTG
ENST00000699605.1:c.2022_2023delinsTG	ENSP00000514473.1:p.Thr674=
ENST00000687278.1:c.39_40delinsTG	ENSP00000509593.1:p.Thr13=
ENST00000003084.11:c.2448_2449delinsTG MANE Select	ENSP00000003084.6:p.Thr816=
ENST00000647720.1:c.98_99delinsTG
ENST00000647978.1:c.*2162_*2163delinsTG	ENSP00000497658.1:n.*2162_*2163delinsTG
ENST00000648260.1:c.1402-10211_1402-10210delinsTG	ENSP00000497957.1:n.1402-10211_1402-10210delinsTG
ENST00000649406.1:c.2265_2266delinsTG	ENSP00000497965.1:p.Thr755=
ENST00000649781.1:c.2265_2266delinsTG	ENSP00000497203.1:p.Thr755=
ENST00000003084.10:c.2448_2449delinsTG	ENSP00000003084.6:p.Thr816=
ENST00000426809.5:c.2358_2359delinsTG	ENSP00000389119.1:p.Thr786=
NM_000492.3:c.2448_2449delinsTG , LRG_663t1:c.2448_2449delinsTG	NP_000483.3:p.Thr816=
XM_011515751.1:c.2538_2539delinsTG	XP_011514053.1:p.Thr846=
XM_011515752.1:c.2538_2539delinsTG	XP_011514054.1:p.Thr846=
XM_011515753.1:c.2205_2206delinsTG	XP_011514055.1:p.Thr735=
XM_011515754.1:c.2205_2206delinsTG	XP_011514056.1:p.Thr735=
NM_000492.4:c.2448_2449delinsTG MANE Select	NP_000483.3:p.Thr816=