Canonical Allele Identifier: CA2579000227

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603540_117603542del , CM000669.2:g.117603540_117603542del	GRCh38
NC_000007.13:g.117243594_117243596del , CM000669.1:g.117243594_117243596del	GRCh37
NC_000007.12:g.117030830_117030832del	NCBI36
NG_016465.4:g.142757_142759del , LRG_663:g.142757_142759del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2666_2668del	ENSP00000497673.2:p.Leu889del
ENST00000647978.2:c.*2380_*2382del	ENSP00000497658.1:n.*2380_*2382del
ENST00000649781.2:c.2483_2485del	ENSP00000497203.1:p.Leu828del
ENST00000685018.2:c.2666_2668del	ENSP00000510194.2:p.Leu889del
ENST00000687278.2:c.2666_2668del	ENSP00000509593.2:p.Leu889del
ENST00000699585.1:c.2666_2668del	ENSP00000514456.1:p.Leu889del
ENST00000699598.1:c.2666_2668del	ENSP00000514467.1:p.Leu889del
ENST00000699599.1:c.2666_2668del	ENSP00000514468.1:p.Leu889del
ENST00000699600.1:c.2666_2668del	ENSP00000514469.1:p.Leu889del
ENST00000699601.1:c.*966_*968del	ENSP00000514470.1:n.*966_*968del
ENST00000699602.1:c.2666_2668del	ENSP00000514471.1:p.Leu889del
ENST00000699604.1:c.*2490_*2492del	ENSP00000514472.1:n.*2490_*2492del
ENST00000699605.1:c.2240_2242del	ENSP00000514473.1:p.Leu747del
ENST00000687278.1:c.257_259del	ENSP00000509593.1:p.Leu86del
ENST00000003084.11:c.2666_2668del MANE Select	ENSP00000003084.6:p.Leu889del
ENST00000647720.1:c.316_318del
ENST00000648260.1:c.1448_1450del	ENSP00000497957.1:p.Leu483del
ENST00000649406.1:c.2483_2485del	ENSP00000497965.1:p.Leu828del
ENST00000649781.1:c.2483_2485del	ENSP00000497203.1:p.Leu828del
ENST00000003084.10:c.2666_2668del	ENSP00000003084.6:p.Leu889del
ENST00000426809.5:c.2576_2578del	ENSP00000389119.1:p.Leu859del
NM_000492.3:c.2666_2668del , LRG_663t1:c.2666_2668del	NP_000483.3:p.Leu889del
XM_011515751.1:c.2756_2758del	XP_011514053.1:p.Leu919del
XM_011515752.1:c.2756_2758del	XP_011514054.1:p.Leu919del
XM_011515753.1:c.2423_2425del	XP_011514055.1:p.Leu808del
XM_011515754.1:c.2423_2425del	XP_011514056.1:p.Leu808del
NM_000492.4:c.2666_2668del MANE Select	NP_000483.3:p.Leu889del