Canonical Allele Identifier: CA2695205220

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642516_117642517dup , CM000669.2:g.117642516_117642517dup	GRCh38
NC_000007.13:g.117282570_117282571dup , CM000669.1:g.117282570_117282571dup	GRCh37
NC_000007.12:g.117069806_117069807dup	NCBI36
NG_016465.4:g.181733_181734dup , LRG_663:g.181733_181734dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*5_*6dup	ENSP00000497673.2:n.*5_*6dup
ENST00000647978.2:c.*3510_*3511dup	ENSP00000497658.1:n.*3510_*3511dup
ENST00000649781.2:c.3613_3614dup	ENSP00000497203.1:p.Ile1206LysfsTer12
ENST00000685018.2:c.3796_3797dup	ENSP00000510194.2:p.Ile1267LysfsTer12
ENST00000687278.2:c.*449_*450dup	ENSP00000509593.2:n.*449_*450dup
ENST00000699585.1:c.*5_*6dup	ENSP00000514456.1:n.*5_*6dup
ENST00000699598.1:c.3796_3797dup	ENSP00000514467.1:p.Ile1267LysfsTer12
ENST00000699599.1:c.3796_3797dup	ENSP00000514468.1:p.Ile1267LysfsTer12
ENST00000699600.1:c.*457_*458dup	ENSP00000514469.1:n.*457_*458dup
ENST00000699601.1:c.*2171_*2172dup	ENSP00000514470.1:n.*2171_*2172dup
ENST00000699602.1:c.3790_3791dup	ENSP00000514471.1:p.Ile1265LysfsTer12
ENST00000699604.1:c.*3620_*3621dup	ENSP00000514472.1:n.*3620_*3621dup
ENST00000699605.1:c.3370_3371dup	ENSP00000514473.1:p.Ile1125LysfsTer12
ENST00000685018.1:c.544_545dup	ENSP00000510194.1:p.Ile183LysfsTer12
ENST00000687278.1:c.1583_1584dup	ENSP00000509593.1:n.1583_1584dup
ENST00000689011.1:c.378_379dup
ENST00000003084.11:c.3796_3797dup MANE Select	ENSP00000003084.6:p.Ile1267LysfsTer12
ENST00000647720.1:c.1246_1247dup
ENST00000649781.1:c.3613_3614dup	ENSP00000497203.1:p.Ile1206LysfsTer12
ENST00000003084.10:c.3796_3797dup	ENSP00000003084.6:p.Ile1267LysfsTer12
ENST00000426809.5:c.3706_3707dup	ENSP00000389119.1:p.Ile1237LysfsTer12
NM_000492.3:c.3796_3797dup , LRG_663t1:c.3796_3797dup	NP_000483.3:p.Ile1267LysfsTer12
XM_011515751.1:c.3886_3887dup	XP_011514053.1:p.Ile1297LysfsTer12
XM_011515752.1:c.3886_3887dup	XP_011514054.1:p.Ile1297LysfsTer12
XM_011515753.1:c.3553_3554dup	XP_011514055.1:p.Ile1186LysfsTer12
XM_011515754.1:c.3553_3554dup	XP_011514056.1:p.Ile1186LysfsTer12
NM_000492.4:c.3796_3797dup MANE Select	NP_000483.3:p.Ile1267LysfsTer12