Canonical Allele Identifier: CA1737394602

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592216_117592220delinsAAAAC , CM000669.2:g.117592216_117592220delinsAAAAC	GRCh38
NC_000007.13:g.117232270_117232274delinsAAAAC , CM000669.1:g.117232270_117232274delinsAAAAC	GRCh37
NC_000007.12:g.117019506_117019510delinsAAAAC	NCBI36
NG_016465.4:g.131433_131437delinsAAAAC , LRG_663:g.131433_131437delinsAAAAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2049_2053delinsAAAAC	ENSP00000497673.2:p.Lys683=
ENST00000647978.2:c.*1763_*1767delinsAAAAC	ENSP00000497658.1:n.*1763_*1767delinsAAAA...
ENST00000649781.2:c.1866_1870delinsAAAAC	ENSP00000497203.1:p.Lys622=
ENST00000685018.2:c.2049_2053delinsAAAAC	ENSP00000510194.2:p.Lys683=
ENST00000687278.2:c.2049_2053delinsAAAAC	ENSP00000509593.2:p.Lys683=
ENST00000699585.1:c.2049_2053delinsAAAAC	ENSP00000514456.1:p.Lys683=
ENST00000699598.1:c.2049_2053delinsAAAAC	ENSP00000514467.1:p.Lys683=
ENST00000699599.1:c.2049_2053delinsAAAAC	ENSP00000514468.1:p.Lys683=
ENST00000699600.1:c.2049_2053delinsAAAAC	ENSP00000514469.1:p.Lys683=
ENST00000699601.1:c.*349_*353delinsAAAAC	ENSP00000514470.1:n.*349_*353delinsAAAAC
ENST00000699602.1:c.2049_2053delinsAAAAC	ENSP00000514471.1:p.Lys683=
ENST00000699604.1:c.*1873_*1877delinsAAAAC	ENSP00000514472.1:n.*1873_*1877delinsAAAA...
ENST00000699605.1:c.1623_1627delinsAAAAC	ENSP00000514473.1:p.Lys541=
ENST00000003084.11:c.2049_2053delinsAAAAC MANE Select	ENSP00000003084.6:p.Lys683=
ENST00000647978.1:c.*1763_*1767delinsAAAAC	ENSP00000497658.1:n.*1763_*1767delinsAAAA...
ENST00000648260.1:c.1402-10610_1402-10606delinsAAAAC	ENSP00000497957.1:n.1402-10610_1402-10606...
ENST00000649406.1:c.1866_1870delinsAAAAC	ENSP00000497965.1:p.Lys622=
ENST00000649781.1:c.1866_1870delinsAAAAC	ENSP00000497203.1:p.Lys622=
ENST00000003084.10:c.2049_2053delinsAAAAC	ENSP00000003084.6:p.Lys683=
ENST00000426809.5:c.1959_1963delinsAAAAC	ENSP00000389119.1:p.Lys653=
NM_000492.3:c.2049_2053delinsAAAAC , LRG_663t1:c.2049_2053delinsAAAAC	NP_000483.3:p.Lys683=
XM_011515751.1:c.2139_2143delinsAAAAC	XP_011514053.1:p.Lys713=
XM_011515752.1:c.2139_2143delinsAAAAC	XP_011514054.1:p.Lys713=
XM_011515753.1:c.1806_1810delinsAAAAC	XP_011514055.1:p.Lys602=
XM_011515754.1:c.1806_1810delinsAAAAC	XP_011514056.1:p.Lys602=
NM_000492.4:c.2049_2053delinsAAAAC MANE Select	NP_000483.3:p.Lys683=