Canonical Allele Identifier: CA1139532361

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117590435dup , CM000669.2:g.117590435dup	GRCh38
NC_000007.13:g.117230489dup , CM000669.1:g.117230489dup	GRCh37
NC_000007.12:g.117017725dup	NCBI36
NG_016465.4:g.129652dup , LRG_663:g.129652dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1762dup	ENSP00000497673.2:p.Glu588GlyfsTer6
ENST00000647978.2:c.*1476dup	ENSP00000497658.1:n.*1476dup
ENST00000649781.2:c.1579dup	ENSP00000497203.1:p.Glu527GlyfsTer6
ENST00000685018.2:c.1762dup	ENSP00000510194.2:p.Glu588GlyfsTer6
ENST00000687278.2:c.1762dup	ENSP00000509593.2:p.Glu588GlyfsTer6
ENST00000699585.1:c.1762dup	ENSP00000514456.1:p.Glu588GlyfsTer6
ENST00000699598.1:c.1762dup	ENSP00000514467.1:p.Glu588GlyfsTer6
ENST00000699599.1:c.1762dup	ENSP00000514468.1:p.Glu588GlyfsTer6
ENST00000699600.1:c.1762dup	ENSP00000514469.1:p.Glu588GlyfsTer6
ENST00000699601.1:c.*62dup	ENSP00000514470.1:n.*62dup
ENST00000699602.1:c.1762dup	ENSP00000514471.1:p.Glu588GlyfsTer6
ENST00000699604.1:c.*1586dup	ENSP00000514472.1:n.*1586dup
ENST00000699605.1:c.1336dup	ENSP00000514473.1:p.Glu446GlyfsTer6
ENST00000003084.11:c.1762dup MANE Select	ENSP00000003084.6:p.Glu588GlyfsTer6
ENST00000647978.1:c.*1476dup	ENSP00000497658.1:n.*1476dup
ENST00000648260.1:c.1402-12391dup	ENSP00000497957.1:n.1402-12391dup
ENST00000649406.1:c.1579dup	ENSP00000497965.1:p.Glu527GlyfsTer6
ENST00000649781.1:c.1579dup	ENSP00000497203.1:p.Glu527GlyfsTer6
ENST00000003084.10:c.1762dup	ENSP00000003084.6:p.Glu588GlyfsTer6
ENST00000426809.5:c.1672dup	ENSP00000389119.1:p.Glu558GlyfsTer6
NM_000492.3:c.1762dup , LRG_663t1:c.1762dup	NP_000483.3:p.Glu588GlyfsTer6
XM_011515751.1:c.1852dup	XP_011514053.1:p.Glu618GlyfsTer6
XM_011515752.1:c.1852dup	XP_011514054.1:p.Glu618GlyfsTer6
XM_011515753.1:c.1519dup	XP_011514055.1:p.Glu507GlyfsTer6
XM_011515754.1:c.1519dup	XP_011514056.1:p.Glu507GlyfsTer6
NM_000492.4:c.1762dup MANE Select	NP_000483.3:p.Glu588GlyfsTer6