Canonical Allele Identifier: CA1737404739

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642463_117642464delinsCA , CM000669.2:g.117642463_117642464delinsCA	GRCh38
NC_000007.13:g.117282517_117282518delinsCA , CM000669.1:g.117282517_117282518delinsCA	GRCh37
NC_000007.12:g.117069753_117069754delinsCA	NCBI36
NG_016465.4:g.181680_181681delinsCA , LRG_663:g.181680_181681delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3543_3544delinsCA	ENSP00000497673.2:p.Ile1181=
ENST00000647978.2:c.*3457_*3458delinsCA	ENSP00000497658.1:n.*3457_*3458delinsCA
ENST00000649781.2:c.3560_3561delinsCA	ENSP00000497203.1:p.Ser1187=
ENST00000685018.2:c.3743_3744delinsCA	ENSP00000510194.2:p.Ser1248=
ENST00000687278.2:c.*396_*397delinsCA	ENSP00000509593.2:n.*396_*397delinsCA
ENST00000699585.1:c.3543_3544delinsCA	ENSP00000514456.1:p.Ile1181=
ENST00000699598.1:c.3743_3744delinsCA	ENSP00000514467.1:p.Ser1248=
ENST00000699599.1:c.3743_3744delinsCA	ENSP00000514468.1:p.Ser1248=
ENST00000699600.1:c.*404_*405delinsCA	ENSP00000514469.1:n.*404_*405delinsCA
ENST00000699601.1:c.*2118_*2119delinsCA	ENSP00000514470.1:n.*2118_*2119delinsCA
ENST00000699602.1:c.3737_3738delinsCA	ENSP00000514471.1:p.Ser1246=
ENST00000699604.1:c.*3567_*3568delinsCA	ENSP00000514472.1:n.*3567_*3568delinsCA
ENST00000699605.1:c.3317_3318delinsCA	ENSP00000514473.1:p.Ser1106=
ENST00000685018.1:c.491_492delinsCA	ENSP00000510194.1:p.Ser164=
ENST00000687278.1:c.1530_1531delinsCA	ENSP00000509593.1:n.1530_1531delinsCA
ENST00000689011.1:c.325_326delinsCA
ENST00000003084.11:c.3743_3744delinsCA MANE Select	ENSP00000003084.6:p.Ser1248=
ENST00000647720.1:c.1193_1194delinsCA
ENST00000649781.1:c.3560_3561delinsCA	ENSP00000497203.1:p.Ser1187=
ENST00000003084.10:c.3743_3744delinsCA	ENSP00000003084.6:p.Ser1248=
ENST00000426809.5:c.3653_3654delinsCA	ENSP00000389119.1:p.Ser1218=
NM_000492.3:c.3743_3744delinsCA , LRG_663t1:c.3743_3744delinsCA	NP_000483.3:p.Ser1248=
XM_011515751.1:c.3833_3834delinsCA	XP_011514053.1:p.Ser1278=
XM_011515752.1:c.3833_3834delinsCA	XP_011514054.1:p.Ser1278=
XM_011515753.1:c.3500_3501delinsCA	XP_011514055.1:p.Ser1167=
XM_011515754.1:c.3500_3501delinsCA	XP_011514056.1:p.Ser1167=
NM_000492.4:c.3743_3744delinsCA MANE Select	NP_000483.3:p.Ser1248=