Canonical Allele Identifier: CA2695208521

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592521_117592528dup , CM000669.2:g.117592521_117592528dup	GRCh38
NC_000007.13:g.117232575_117232582dup , CM000669.1:g.117232575_117232582dup	GRCh37
NC_000007.12:g.117019811_117019818dup	NCBI36
NG_016465.4:g.131738_131745dup , LRG_663:g.131738_131745dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2354_2361dup	ENSP00000497673.2:p.Thr788GlufsTer18
ENST00000647978.2:c.*2068_*2075dup	ENSP00000497658.1:n.*2068_*2075dup
ENST00000649781.2:c.2171_2178dup	ENSP00000497203.1:p.Thr727GlufsTer18
ENST00000685018.2:c.2354_2361dup	ENSP00000510194.2:p.Thr788GlufsTer18
ENST00000687278.2:c.2354_2361dup	ENSP00000509593.2:p.Thr788GlufsTer18
ENST00000699585.1:c.2354_2361dup	ENSP00000514456.1:p.Thr788GlufsTer18
ENST00000699598.1:c.2354_2361dup	ENSP00000514467.1:p.Thr788GlufsTer18
ENST00000699599.1:c.2354_2361dup	ENSP00000514468.1:p.Thr788GlufsTer18
ENST00000699600.1:c.2354_2361dup	ENSP00000514469.1:p.Thr788GlufsTer18
ENST00000699601.1:c.*654_*661dup	ENSP00000514470.1:n.*654_*661dup
ENST00000699602.1:c.2354_2361dup	ENSP00000514471.1:p.Thr788GlufsTer18
ENST00000699604.1:c.*2178_*2185dup	ENSP00000514472.1:n.*2178_*2185dup
ENST00000699605.1:c.1928_1935dup	ENSP00000514473.1:p.Thr646GlufsTer18
ENST00000003084.11:c.2354_2361dup MANE Select	ENSP00000003084.6:p.Thr788GlufsTer18
ENST00000647720.1:c.4_11dup
ENST00000647978.1:c.*2068_*2075dup	ENSP00000497658.1:n.*2068_*2075dup
ENST00000648260.1:c.1402-10305_1402-10298dup	ENSP00000497957.1:n.1402-10305_1402-10298...
ENST00000649406.1:c.2171_2178dup	ENSP00000497965.1:p.Thr727GlufsTer18
ENST00000649781.1:c.2171_2178dup	ENSP00000497203.1:p.Thr727GlufsTer18
ENST00000003084.10:c.2354_2361dup	ENSP00000003084.6:p.Thr788GlufsTer18
ENST00000426809.5:c.2264_2271dup	ENSP00000389119.1:p.Thr758GlufsTer18
NM_000492.3:c.2354_2361dup , LRG_663t1:c.2354_2361dup	NP_000483.3:p.Thr788GlufsTer18
XM_011515751.1:c.2444_2451dup	XP_011514053.1:p.Thr818GlufsTer18
XM_011515752.1:c.2444_2451dup	XP_011514054.1:p.Thr818GlufsTer18
XM_011515753.1:c.2111_2118dup	XP_011514055.1:p.Thr707GlufsTer18
XM_011515754.1:c.2111_2118dup	XP_011514056.1:p.Thr707GlufsTer18
NM_000492.4:c.2354_2361dup MANE Select	NP_000483.3:p.Thr788GlufsTer18