Canonical Allele Identifier: CA1737390457

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117587795_117587797delinsACT , CM000669.2:g.117587795_117587797delinsACT	GRCh38
NC_000007.13:g.117227849_117227851delinsACT , CM000669.1:g.117227849_117227851delinsACT	GRCh37
NC_000007.12:g.117015085_117015087delinsACT	NCBI36
NG_016465.4:g.127012_127014delinsACT , LRG_663:g.127012_127014delinsACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1641_1643delinsACT	ENSP00000497673.2:p.Thr547=
ENST00000647978.2:c.*1355_*1357delinsACT	ENSP00000497658.1:n.*1355_*1357delinsACT
ENST00000649781.2:c.1458_1460delinsACT	ENSP00000497203.1:p.Thr486=
ENST00000685018.2:c.1641_1643delinsACT	ENSP00000510194.2:p.Thr547=
ENST00000687278.2:c.1641_1643delinsACT	ENSP00000509593.2:p.Thr547=
ENST00000699585.1:c.1641_1643delinsACT	ENSP00000514456.1:p.Thr547=
ENST00000699598.1:c.1641_1643delinsACT	ENSP00000514467.1:p.Thr547=
ENST00000699599.1:c.1641_1643delinsACT	ENSP00000514468.1:p.Thr547=
ENST00000699600.1:c.1641_1643delinsACT	ENSP00000514469.1:p.Thr547=
ENST00000699601.1:c.1641_1643delinsACT	ENSP00000514470.1:p.Thr547=
ENST00000699602.1:c.1641_1643delinsACT	ENSP00000514471.1:p.Thr547=
ENST00000699604.1:c.*1465_*1467delinsACT	ENSP00000514472.1:n.*1465_*1467delinsACT
ENST00000699605.1:c.1215_1217delinsACT	ENSP00000514473.1:p.Thr405=
ENST00000003084.11:c.1641_1643delinsACT MANE Select	ENSP00000003084.6:p.Thr547=
ENST00000647978.1:c.*1355_*1357delinsACT	ENSP00000497658.1:n.*1355_*1357delinsACT
ENST00000648260.1:c.1402-15031_1402-15029delinsACT	ENSP00000497957.1:n.1402-15031_1402-15029delinsACT
ENST00000649406.1:c.1458_1460delinsACT	ENSP00000497965.1:p.Thr486=
ENST00000649781.1:c.1458_1460delinsACT	ENSP00000497203.1:p.Thr486=
ENST00000003084.10:c.1641_1643delinsACT	ENSP00000003084.6:p.Thr547=
ENST00000426809.5:c.1551_1553delinsACT	ENSP00000389119.1:p.Thr517=
NM_000492.3:c.1641_1643delinsACT , LRG_663t1:c.1641_1643delinsACT	NP_000483.3:p.Thr547=
XM_011515751.1:c.1731_1733delinsACT	XP_011514053.1:p.Thr577=
XM_011515752.1:c.1731_1733delinsACT	XP_011514054.1:p.Thr577=
XM_011515753.1:c.1398_1400delinsACT	XP_011514055.1:p.Thr466=
XM_011515754.1:c.1398_1400delinsACT	XP_011514056.1:p.Thr466=
NM_000492.4:c.1641_1643delinsACT MANE Select	NP_000483.3:p.Thr547=