Canonical Allele Identifier: CA1737398671

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627650_117627652delinsGAA , CM000669.2:g.117627650_117627652delinsGAA	GRCh38
NC_000007.13:g.117267704_117267706delinsGAA , CM000669.1:g.117267704_117267706delinsGAA	GRCh37
NC_000007.12:g.117054940_117054942delinsGAA	NCBI36
NG_016465.4:g.166867_166869delinsGAA , LRG_663:g.166867_166869delinsGAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3517+80_3517+82delinsGAA	ENSP00000497673.2:n.3517+80_3517+82delins...
ENST00000647978.2:c.*3311_*3313delinsGAA	ENSP00000497658.1:n.*3311_*3313delinsGAA
ENST00000649781.2:c.3414_3416delinsGAA	ENSP00000497203.1:p.Lys1138=
ENST00000685018.2:c.3597_3599delinsGAA	ENSP00000510194.2:p.Lys1199=
ENST00000687278.2:c.*250_*252delinsGAA	ENSP00000509593.2:n.*250_*252delinsGAA
ENST00000699585.1:c.3517+80_3517+82delinsGAA	ENSP00000514456.1:n.3517+80_3517+82delins...
ENST00000699598.1:c.3597_3599delinsGAA	ENSP00000514467.1:p.Lys1199=
ENST00000699599.1:c.3597_3599delinsGAA	ENSP00000514468.1:p.Lys1199=
ENST00000699600.1:c.*258_*260delinsGAA	ENSP00000514469.1:n.*258_*260delinsGAA
ENST00000699601.1:c.*1972_*1974delinsGAA	ENSP00000514470.1:n.*1972_*1974delinsGAA
ENST00000699602.1:c.3591_3593delinsGAA	ENSP00000514471.1:p.Lys1197=
ENST00000699604.1:c.*3421_*3423delinsGAA	ENSP00000514472.1:n.*3421_*3423delinsGAA
ENST00000699605.1:c.3171_3173delinsGAA	ENSP00000514473.1:p.Lys1057=
ENST00000685018.1:c.345_347delinsGAA	ENSP00000510194.1:p.Lys115=
ENST00000687278.1:c.1384_1386delinsGAA	ENSP00000509593.1:n.1384_1386delinsGAA
ENST00000689011.1:c.179_181delinsGAA
ENST00000003084.11:c.3597_3599delinsGAA MANE Select	ENSP00000003084.6:p.Lys1199=
ENST00000647720.1:c.1167+80_1167+82delinsGAA
ENST00000648260.1:c.2379_2381delinsGAA	ENSP00000497957.1:p.Lys793=
ENST00000649406.1:c.3414_3416delinsGAA	ENSP00000497965.1:p.Lys1138=
ENST00000649781.1:c.3414_3416delinsGAA	ENSP00000497203.1:p.Lys1138=
ENST00000003084.10:c.3597_3599delinsGAA	ENSP00000003084.6:p.Lys1199=
ENST00000426809.5:c.3507_3509delinsGAA	ENSP00000389119.1:p.Lys1169=
ENST00000468795.1:c.422_424delinsGAA
NM_000492.3:c.3597_3599delinsGAA , LRG_663t1:c.3597_3599delinsGAA	NP_000483.3:p.Lys1199=
XM_011515751.1:c.3687_3689delinsGAA	XP_011514053.1:p.Lys1229=
XM_011515752.1:c.3687_3689delinsGAA	XP_011514054.1:p.Lys1229=
XM_011515753.1:c.3354_3356delinsGAA	XP_011514055.1:p.Lys1118=
XM_011515754.1:c.3354_3356delinsGAA	XP_011514056.1:p.Lys1118=
NM_000492.4:c.3597_3599delinsGAA MANE Select	NP_000483.3:p.Lys1199=