Canonical Allele Identifier: CA1737394460

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592177_117592178delinsAT , CM000669.2:g.117592177_117592178delinsAT	GRCh38
NC_000007.13:g.117232231_117232232delinsAT , CM000669.1:g.117232231_117232232delinsAT	GRCh37
NC_000007.12:g.117019467_117019468delinsAT	NCBI36
NG_016465.4:g.131394_131395delinsAT , LRG_663:g.131394_131395delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2010_2011delinsAT	ENSP00000497673.2:p.Ser670=
ENST00000647978.2:c.*1724_*1725delinsAT	ENSP00000497658.1:n.*1724_*1725delinsAT
ENST00000649781.2:c.1827_1828delinsAT	ENSP00000497203.1:p.Ser609=
ENST00000685018.2:c.2010_2011delinsAT	ENSP00000510194.2:p.Ser670=
ENST00000687278.2:c.2010_2011delinsAT	ENSP00000509593.2:p.Ser670=
ENST00000699585.1:c.2010_2011delinsAT	ENSP00000514456.1:p.Ser670=
ENST00000699598.1:c.2010_2011delinsAT	ENSP00000514467.1:p.Ser670=
ENST00000699599.1:c.2010_2011delinsAT	ENSP00000514468.1:p.Ser670=
ENST00000699600.1:c.2010_2011delinsAT	ENSP00000514469.1:p.Ser670=
ENST00000699601.1:c.*310_*311delinsAT	ENSP00000514470.1:n.*310_*311delinsAT
ENST00000699602.1:c.2010_2011delinsAT	ENSP00000514471.1:p.Ser670=
ENST00000699604.1:c.*1834_*1835delinsAT	ENSP00000514472.1:n.*1834_*1835delinsAT
ENST00000699605.1:c.1584_1585delinsAT	ENSP00000514473.1:p.Ser528=
ENST00000003084.11:c.2010_2011delinsAT MANE Select	ENSP00000003084.6:p.Ser670=
ENST00000647978.1:c.*1724_*1725delinsAT	ENSP00000497658.1:n.*1724_*1725delinsAT
ENST00000648260.1:c.1402-10649_1402-10648delinsAT	ENSP00000497957.1:n.1402-10649_1402-10648delinsAT
ENST00000649406.1:c.1827_1828delinsAT	ENSP00000497965.1:p.Ser609=
ENST00000649781.1:c.1827_1828delinsAT	ENSP00000497203.1:p.Ser609=
ENST00000003084.10:c.2010_2011delinsAT	ENSP00000003084.6:p.Ser670=
ENST00000426809.5:c.1920_1921delinsAT	ENSP00000389119.1:p.Ser640=
NM_000492.3:c.2010_2011delinsAT , LRG_663t1:c.2010_2011delinsAT	NP_000483.3:p.Ser670=
XM_011515751.1:c.2100_2101delinsAT	XP_011514053.1:p.Ser700=
XM_011515752.1:c.2100_2101delinsAT	XP_011514054.1:p.Ser700=
XM_011515753.1:c.1767_1768delinsAT	XP_011514055.1:p.Ser589=
XM_011515754.1:c.1767_1768delinsAT	XP_011514056.1:p.Ser589=
NM_000492.4:c.2010_2011delinsAT MANE Select	NP_000483.3:p.Ser670=