Canonical Allele Identifier: CA1737395164

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592440_117592442delinsGCC , CM000669.2:g.117592440_117592442delinsGCC	GRCh38
NC_000007.13:g.117232494_117232496delinsGCC , CM000669.1:g.117232494_117232496delinsGCC	GRCh37
NC_000007.12:g.117019730_117019732delinsGCC	NCBI36
NG_016465.4:g.131657_131659delinsGCC , LRG_663:g.131657_131659delinsGCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2273_2275delinsGCC	ENSP00000497673.2:p.Gly758=
ENST00000647978.2:c.*1987_*1989delinsGCC	ENSP00000497658.1:n.*1987_*1989delinsGCC
ENST00000649781.2:c.2090_2092delinsGCC	ENSP00000497203.1:p.Gly697=
ENST00000685018.2:c.2273_2275delinsGCC	ENSP00000510194.2:p.Gly758=
ENST00000687278.2:c.2273_2275delinsGCC	ENSP00000509593.2:p.Gly758=
ENST00000699585.1:c.2273_2275delinsGCC	ENSP00000514456.1:p.Gly758=
ENST00000699598.1:c.2273_2275delinsGCC	ENSP00000514467.1:p.Gly758=
ENST00000699599.1:c.2273_2275delinsGCC	ENSP00000514468.1:p.Gly758=
ENST00000699600.1:c.2273_2275delinsGCC	ENSP00000514469.1:p.Gly758=
ENST00000699601.1:c.*573_*575delinsGCC	ENSP00000514470.1:n.*573_*575delinsGCC
ENST00000699602.1:c.2273_2275delinsGCC	ENSP00000514471.1:p.Gly758=
ENST00000699604.1:c.*2097_*2099delinsGCC	ENSP00000514472.1:n.*2097_*2099delinsGCC
ENST00000699605.1:c.1847_1849delinsGCC	ENSP00000514473.1:p.Gly616=
ENST00000003084.11:c.2273_2275delinsGCC MANE Select	ENSP00000003084.6:p.Gly758=
ENST00000647978.1:c.*1987_*1989delinsGCC	ENSP00000497658.1:n.*1987_*1989delinsGCC
ENST00000648260.1:c.1402-10386_1402-10384delinsGCC	ENSP00000497957.1:n.1402-10386_1402-10384delinsGCC
ENST00000649406.1:c.2090_2092delinsGCC	ENSP00000497965.1:p.Gly697=
ENST00000649781.1:c.2090_2092delinsGCC	ENSP00000497203.1:p.Gly697=
ENST00000003084.10:c.2273_2275delinsGCC	ENSP00000003084.6:p.Gly758=
ENST00000426809.5:c.2183_2185delinsGCC	ENSP00000389119.1:p.Gly728=
NM_000492.3:c.2273_2275delinsGCC , LRG_663t1:c.2273_2275delinsGCC	NP_000483.3:p.Gly758=
XM_011515751.1:c.2363_2365delinsGCC	XP_011514053.1:p.Gly788=
XM_011515752.1:c.2363_2365delinsGCC	XP_011514054.1:p.Gly788=
XM_011515753.1:c.2030_2032delinsGCC	XP_011514055.1:p.Gly677=
XM_011515754.1:c.2030_2032delinsGCC	XP_011514056.1:p.Gly677=
NM_000492.4:c.2273_2275delinsGCC MANE Select	NP_000483.3:p.Gly758=