Canonical Allele Identifier: CA1139573579

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603597_117603599del , CM000669.2:g.117603597_117603599del	GRCh38
NC_000007.13:g.117243651_117243653del , CM000669.1:g.117243651_117243653del	GRCh37
NC_000007.12:g.117030887_117030889del	NCBI36
NG_016465.4:g.142814_142816del , LRG_663:g.142814_142816del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2723_2725del	ENSP00000497673.2:p.Thr908del
ENST00000647978.2:c.*2437_*2439del	ENSP00000497658.1:n.*2437_*2439del
ENST00000649781.2:c.2540_2542del	ENSP00000497203.1:p.Thr847del
ENST00000685018.2:c.2723_2725del	ENSP00000510194.2:p.Thr908del
ENST00000687278.2:c.2723_2725del	ENSP00000509593.2:p.Thr908del
ENST00000699585.1:c.2723_2725del	ENSP00000514456.1:p.Thr908del
ENST00000699598.1:c.2723_2725del	ENSP00000514467.1:p.Thr908del
ENST00000699599.1:c.2723_2725del	ENSP00000514468.1:p.Thr908del
ENST00000699600.1:c.2723_2725del	ENSP00000514469.1:p.Thr908del
ENST00000699601.1:c.*1023_*1025del	ENSP00000514470.1:n.*1023_*1025del
ENST00000699602.1:c.2723_2725del	ENSP00000514471.1:p.Thr908del
ENST00000699604.1:c.*2547_*2549del	ENSP00000514472.1:n.*2547_*2549del
ENST00000699605.1:c.2297_2299del	ENSP00000514473.1:p.Thr766del
ENST00000687278.1:c.314_316del	ENSP00000509593.1:p.Thr105del
ENST00000003084.11:c.2723_2725del MANE Select	ENSP00000003084.6:p.Thr908del
ENST00000647720.1:c.373_375del
ENST00000648260.1:c.1505_1507del	ENSP00000497957.1:p.Thr502del
ENST00000649406.1:c.2540_2542del	ENSP00000497965.1:p.Thr847del
ENST00000649781.1:c.2540_2542del	ENSP00000497203.1:p.Thr847del
ENST00000003084.10:c.2723_2725del	ENSP00000003084.6:p.Thr908del
ENST00000426809.5:c.2633_2635del	ENSP00000389119.1:p.Thr878del
NM_000492.3:c.2723_2725del , LRG_663t1:c.2723_2725del	NP_000483.3:p.Thr908del
XM_011515751.1:c.2813_2815del	XP_011514053.1:p.Thr938del
XM_011515752.1:c.2813_2815del	XP_011514054.1:p.Thr938del
XM_011515753.1:c.2480_2482del	XP_011514055.1:p.Thr827del
XM_011515754.1:c.2480_2482del	XP_011514056.1:p.Thr827del
NM_000492.4:c.2723_2725del MANE Select	NP_000483.3:p.Thr908del