Canonical Allele Identifier: CA1737394382

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592150_117592154delinsCCTAA , CM000669.2:g.117592150_117592154delinsCCTAA	GRCh38
NC_000007.13:g.117232204_117232208delinsCCTAA , CM000669.1:g.117232204_117232208delinsCCTAA	GRCh37
NC_000007.12:g.117019440_117019444delinsCCTAA	NCBI36
NG_016465.4:g.131367_131371delinsCCTAA , LRG_663:g.131367_131371delinsCCTAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.1983_1987delinsCCTAA	ENSP00000497673.2:p.Ile661=
ENST00000647978.2:c.*1697_*1701delinsCCTAA	ENSP00000497658.1:n.*1697_*1701delinsCCTA...
ENST00000649781.2:c.1800_1804delinsCCTAA	ENSP00000497203.1:p.Ile600=
ENST00000685018.2:c.1983_1987delinsCCTAA	ENSP00000510194.2:p.Ile661=
ENST00000687278.2:c.1983_1987delinsCCTAA	ENSP00000509593.2:p.Ile661=
ENST00000699585.1:c.1983_1987delinsCCTAA	ENSP00000514456.1:p.Ile661=
ENST00000699598.1:c.1983_1987delinsCCTAA	ENSP00000514467.1:p.Ile661=
ENST00000699599.1:c.1983_1987delinsCCTAA	ENSP00000514468.1:p.Ile661=
ENST00000699600.1:c.1983_1987delinsCCTAA	ENSP00000514469.1:p.Ile661=
ENST00000699601.1:c.*283_*287delinsCCTAA	ENSP00000514470.1:n.*283_*287delinsCCTAA
ENST00000699602.1:c.1983_1987delinsCCTAA	ENSP00000514471.1:p.Ile661=
ENST00000699604.1:c.*1807_*1811delinsCCTAA	ENSP00000514472.1:n.*1807_*1811delinsCCTA...
ENST00000699605.1:c.1557_1561delinsCCTAA	ENSP00000514473.1:p.Ile519=
ENST00000003084.11:c.1983_1987delinsCCTAA MANE Select	ENSP00000003084.6:p.Ile661=
ENST00000647978.1:c.*1697_*1701delinsCCTAA	ENSP00000497658.1:n.*1697_*1701delinsCCTA...
ENST00000648260.1:c.1402-10676_1402-10672delinsCCTAA	ENSP00000497957.1:n.1402-10676_1402-10672...
ENST00000649406.1:c.1800_1804delinsCCTAA	ENSP00000497965.1:p.Ile600=
ENST00000649781.1:c.1800_1804delinsCCTAA	ENSP00000497203.1:p.Ile600=
ENST00000003084.10:c.1983_1987delinsCCTAA	ENSP00000003084.6:p.Ile661=
ENST00000426809.5:c.1893_1897delinsCCTAA	ENSP00000389119.1:p.Ile631=
NM_000492.3:c.1983_1987delinsCCTAA , LRG_663t1:c.1983_1987delinsCCTAA	NP_000483.3:p.Ile661=
XM_011515751.1:c.2073_2077delinsCCTAA	XP_011514053.1:p.Ile691=
XM_011515752.1:c.2073_2077delinsCCTAA	XP_011514054.1:p.Ile691=
XM_011515753.1:c.1740_1744delinsCCTAA	XP_011514055.1:p.Ile580=
XM_011515754.1:c.1740_1744delinsCCTAA	XP_011514056.1:p.Ile580=
NM_000492.4:c.1983_1987delinsCCTAA MANE Select	NP_000483.3:p.Ile661=