Canonical Allele Identifier: CA2695208515

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592404_117592414del , CM000669.2:g.117592404_117592414del	GRCh38
NC_000007.13:g.117232458_117232468del , CM000669.1:g.117232458_117232468del	GRCh37
NC_000007.12:g.117019694_117019704del	NCBI36
NG_016465.4:g.131621_131631del , LRG_663:g.131621_131631del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2237_2247del	ENSP00000497673.2:p.Glu746AlafsTer29
ENST00000647978.2:c.*1951_*1961del	ENSP00000497658.1:n.*1951_*1961del
ENST00000649781.2:c.2054_2064del	ENSP00000497203.1:p.Glu685AlafsTer29
ENST00000685018.2:c.2237_2247del	ENSP00000510194.2:p.Glu746AlafsTer29
ENST00000687278.2:c.2237_2247del	ENSP00000509593.2:p.Glu746AlafsTer29
ENST00000699585.1:c.2237_2247del	ENSP00000514456.1:p.Glu746AlafsTer29
ENST00000699598.1:c.2237_2247del	ENSP00000514467.1:p.Glu746AlafsTer29
ENST00000699599.1:c.2237_2247del	ENSP00000514468.1:p.Glu746AlafsTer29
ENST00000699600.1:c.2237_2247del	ENSP00000514469.1:p.Glu746AlafsTer29
ENST00000699601.1:c.*537_*547del	ENSP00000514470.1:n.*537_*547del
ENST00000699602.1:c.2237_2247del	ENSP00000514471.1:p.Glu746AlafsTer29
ENST00000699604.1:c.*2061_*2071del	ENSP00000514472.1:n.*2061_*2071del
ENST00000699605.1:c.1811_1821del	ENSP00000514473.1:p.Glu604AlafsTer29
ENST00000003084.11:c.2237_2247del MANE Select	ENSP00000003084.6:p.Glu746AlafsTer29
ENST00000647978.1:c.*1951_*1961del	ENSP00000497658.1:n.*1951_*1961del
ENST00000648260.1:c.1402-10422_1402-10412del	ENSP00000497957.1:n.1402-10422_1402-10412del
ENST00000649406.1:c.2054_2064del	ENSP00000497965.1:p.Glu685AlafsTer29
ENST00000649781.1:c.2054_2064del	ENSP00000497203.1:p.Glu685AlafsTer29
ENST00000003084.10:c.2237_2247del	ENSP00000003084.6:p.Glu746AlafsTer29
ENST00000426809.5:c.2147_2157del	ENSP00000389119.1:p.Glu716AlafsTer29
NM_000492.3:c.2237_2247del , LRG_663t1:c.2237_2247del	NP_000483.3:p.Glu746AlafsTer29
XM_011515751.1:c.2327_2337del	XP_011514053.1:p.Glu776AlafsTer29
XM_011515752.1:c.2327_2337del	XP_011514054.1:p.Glu776AlafsTer29
XM_011515753.1:c.1994_2004del	XP_011514055.1:p.Glu665AlafsTer29
XM_011515754.1:c.1994_2004del	XP_011514056.1:p.Glu665AlafsTer29
NM_000492.4:c.2237_2247del MANE Select	NP_000483.3:p.Glu746AlafsTer29