Canonical Allele Identifier: CA1737395606

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592593_117592596delinsCAAG , CM000669.2:g.117592593_117592596delinsCAAG	GRCh38
NC_000007.13:g.117232647_117232650delinsCAAG , CM000669.1:g.117232647_117232650delinsCAAG	GRCh37
NC_000007.12:g.117019883_117019886delinsCAAG	NCBI36
NG_016465.4:g.131810_131813delinsCAAG , LRG_663:g.131810_131813delinsCAAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2426_2429delinsCAAG	ENSP00000497673.2:p.Ser809=
ENST00000647978.2:c.*2140_*2143delinsCAAG	ENSP00000497658.1:n.*2140_*2143delinsCAAG...
ENST00000649781.2:c.2243_2246delinsCAAG	ENSP00000497203.1:p.Ser748=
ENST00000685018.2:c.2426_2429delinsCAAG	ENSP00000510194.2:p.Ser809=
ENST00000687278.2:c.2426_2429delinsCAAG	ENSP00000509593.2:p.Ser809=
ENST00000699585.1:c.2426_2429delinsCAAG	ENSP00000514456.1:p.Ser809=
ENST00000699598.1:c.2426_2429delinsCAAG	ENSP00000514467.1:p.Ser809=
ENST00000699599.1:c.2426_2429delinsCAAG	ENSP00000514468.1:p.Ser809=
ENST00000699600.1:c.2426_2429delinsCAAG	ENSP00000514469.1:p.Ser809=
ENST00000699601.1:c.*726_*729delinsCAAG	ENSP00000514470.1:n.*726_*729delinsCAAG
ENST00000699602.1:c.2426_2429delinsCAAG	ENSP00000514471.1:p.Ser809=
ENST00000699604.1:c.*2250_*2253delinsCAAG	ENSP00000514472.1:n.*2250_*2253delinsCAAG...
ENST00000699605.1:c.2000_2003delinsCAAG	ENSP00000514473.1:p.Ser667=
ENST00000687278.1:c.17_20delinsCAAG	ENSP00000509593.1:p.Ser6=
ENST00000003084.11:c.2426_2429delinsCAAG MANE Select	ENSP00000003084.6:p.Ser809=
ENST00000647720.1:c.76_79delinsCAAG
ENST00000647978.1:c.*2140_*2143delinsCAAG	ENSP00000497658.1:n.*2140_*2143delinsCAAG...
ENST00000648260.1:c.1402-10233_1402-10230delinsCAAG	ENSP00000497957.1:n.1402-10233_1402-10230...
ENST00000649406.1:c.2243_2246delinsCAAG	ENSP00000497965.1:p.Ser748=
ENST00000649781.1:c.2243_2246delinsCAAG	ENSP00000497203.1:p.Ser748=
ENST00000003084.10:c.2426_2429delinsCAAG	ENSP00000003084.6:p.Ser809=
ENST00000426809.5:c.2336_2339delinsCAAG	ENSP00000389119.1:p.Ser779=
NM_000492.3:c.2426_2429delinsCAAG , LRG_663t1:c.2426_2429delinsCAAG	NP_000483.3:p.Ser809=
XM_011515751.1:c.2516_2519delinsCAAG	XP_011514053.1:p.Ser839=
XM_011515752.1:c.2516_2519delinsCAAG	XP_011514054.1:p.Ser839=
XM_011515753.1:c.2183_2186delinsCAAG	XP_011514055.1:p.Ser728=
XM_011515754.1:c.2183_2186delinsCAAG	XP_011514056.1:p.Ser728=
NM_000492.4:c.2426_2429delinsCAAG MANE Select	NP_000483.3:p.Ser809=