Canonical Allele Identifier: CA1737421941

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664764_117664765delinsGC , CM000669.2:g.117664764_117664765delinsGC	GRCh38
NC_000007.13:g.117304818_117304819delinsGC , CM000669.1:g.117304818_117304819delinsGC	GRCh37
NC_000007.12:g.117092054_117092055delinsGC	NCBI36
NG_016465.4:g.203981_203982delinsGC , LRG_663:g.203981_203982delinsGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*249_*250delinsGC	ENSP00000497673.2:n.*249_*250delinsGC
ENST00000647978.2:c.*3754_*3755delinsGC	ENSP00000497658.1:n.*3754_*3755delinsGC
ENST00000649781.2:c.3857_3858delinsGC	ENSP00000497203.1:p.Ser1286=
ENST00000685018.2:c.*253_*254delinsGC	ENSP00000510194.2:n.*253_*254delinsGC
ENST00000687278.2:c.*693_*694delinsGC	ENSP00000509593.2:n.*693_*694delinsGC
ENST00000699585.1:c.*249_*250delinsGC	ENSP00000514456.1:n.*249_*250delinsGC
ENST00000699598.1:c.4040_4041delinsGC	ENSP00000514467.1:p.Ser1347=
ENST00000699599.1:c.*253_*254delinsGC	ENSP00000514468.1:n.*253_*254delinsGC
ENST00000699600.1:c.*701_*702delinsGC	ENSP00000514469.1:n.*701_*702delinsGC
ENST00000699601.1:c.*2415_*2416delinsGC	ENSP00000514470.1:n.*2415_*2416delinsGC
ENST00000699602.1:c.4034_4035delinsGC	ENSP00000514471.1:p.Ser1345=
ENST00000699604.1:c.*3864_*3865delinsGC	ENSP00000514472.1:n.*3864_*3865delinsGC
ENST00000699605.1:c.3614_3615delinsGC	ENSP00000514473.1:p.Ser1205=
ENST00000699606.1:n.2208_2209delinsGC
ENST00000685018.1:c.904_905delinsGC	ENSP00000510194.1:n.904_905delinsGC
ENST00000687278.1:c.1827_1828delinsGC	ENSP00000509593.1:n.1827_1828delinsGC
ENST00000689011.1:c.622_623delinsGC
ENST00000003084.11:c.4040_4041delinsGC MANE Select	ENSP00000003084.6:p.Ser1347=
ENST00000647720.1:c.1490_1491delinsGC
ENST00000649781.1:c.3857_3858delinsGC	ENSP00000497203.1:p.Ser1286=
ENST00000003084.10:c.4040_4041delinsGC	ENSP00000003084.6:p.Ser1347=
ENST00000426809.5:c.3950_3951delinsGC	ENSP00000389119.1:p.Ser1317=
ENST00000600166.1:c.166_167delinsGC
NM_000492.3:c.4040_4041delinsGC , LRG_663t1:c.4040_4041delinsGC	NP_000483.3:p.Ser1347=
XM_011515751.1:c.4130_4131delinsGC	XP_011514053.1:p.Ser1377=
XM_011515752.1:c.4130_4131delinsGC	XP_011514054.1:p.Ser1377=
XM_011515753.1:c.3797_3798delinsGC	XP_011514055.1:p.Ser1266=
XM_011515754.1:c.3797_3798delinsGC	XP_011514056.1:p.Ser1266=
NM_000492.4:c.4040_4041delinsGC MANE Select	NP_000483.3:p.Ser1347=