Canonical Allele Identifier: CA2839051592

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603553dup , CM000669.2:g.117603553dup	GRCh38
NC_000007.13:g.117243607dup , CM000669.1:g.117243607dup	GRCh37
NC_000007.12:g.117030843dup	NCBI36
NG_016465.4:g.142770dup , LRG_663:g.142770dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2679dup	ENSP00000497673.2:p.Asn894GlufsTer2
ENST00000647978.2:c.*2393dup	ENSP00000497658.1:n.*2393dup
ENST00000649781.2:c.2496dup	ENSP00000497203.1:p.Asn833GlufsTer2
ENST00000685018.2:c.2679dup	ENSP00000510194.2:p.Asn894GlufsTer2
ENST00000687278.2:c.2679dup	ENSP00000509593.2:p.Asn894GlufsTer2
ENST00000699585.1:c.2679dup	ENSP00000514456.1:p.Asn894GlufsTer2
ENST00000699598.1:c.2679dup	ENSP00000514467.1:p.Asn894GlufsTer2
ENST00000699599.1:c.2679dup	ENSP00000514468.1:p.Asn894GlufsTer2
ENST00000699600.1:c.2679dup	ENSP00000514469.1:p.Asn894GlufsTer2
ENST00000699601.1:c.*979dup	ENSP00000514470.1:n.*979dup
ENST00000699602.1:c.2679dup	ENSP00000514471.1:p.Asn894GlufsTer2
ENST00000699604.1:c.*2503dup	ENSP00000514472.1:n.*2503dup
ENST00000699605.1:c.2253dup	ENSP00000514473.1:p.Asn752GlufsTer2
ENST00000687278.1:c.270dup	ENSP00000509593.1:p.Asn91GlufsTer2
ENST00000003084.11:c.2679dup MANE Select	ENSP00000003084.6:p.Asn894GlufsTer2
ENST00000647720.1:c.329dup
ENST00000648260.1:c.1461dup	ENSP00000497957.1:p.Asn488GlufsTer2
ENST00000649406.1:c.2496dup	ENSP00000497965.1:p.Asn833GlufsTer2
ENST00000649781.1:c.2496dup	ENSP00000497203.1:p.Asn833GlufsTer2
ENST00000003084.10:c.2679dup	ENSP00000003084.6:p.Asn894GlufsTer2
ENST00000426809.5:c.2589dup	ENSP00000389119.1:p.Asn864GlufsTer2
NM_000492.3:c.2679dup , LRG_663t1:c.2679dup	NP_000483.3:p.Asn894GlufsTer2
XM_011515751.1:c.2769dup	XP_011514053.1:p.Asn924GlufsTer2
XM_011515752.1:c.2769dup	XP_011514054.1:p.Asn924GlufsTer2
XM_011515753.1:c.2436dup	XP_011514055.1:p.Asn813GlufsTer2
XM_011515754.1:c.2436dup	XP_011514056.1:p.Asn813GlufsTer2
NM_000492.4:c.2679dup MANE Select	NP_000483.3:p.Asn894GlufsTer2