Canonical Allele Identifier: CA2695208430

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117610563dup , CM000669.2:g.117610563dup	GRCh38
NC_000007.13:g.117250617dup , CM000669.1:g.117250617dup	GRCh37
NC_000007.12:g.117037853dup	NCBI36
NG_016465.4:g.149780dup , LRG_663:g.149780dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3033dup	ENSP00000497673.2:p.Gln1012ThrfsTer?
ENST00000647978.2:c.*2747dup	ENSP00000497658.1:n.*2747dup
ENST00000649781.2:c.2850dup	ENSP00000497203.1:p.Gln951ThrfsTer?
ENST00000685018.2:c.3033dup	ENSP00000510194.2:p.Gln1012ThrfsTer?
ENST00000687278.2:c.3033dup	ENSP00000509593.2:p.Gln1012ThrfsTer?
ENST00000699585.1:c.3033dup	ENSP00000514456.1:p.Gln1012ThrfsTer?
ENST00000699598.1:c.3033dup	ENSP00000514467.1:p.Gln1012ThrfsTer?
ENST00000699599.1:c.3033dup	ENSP00000514468.1:p.Gln1012ThrfsTer?
ENST00000699600.1:c.3033dup	ENSP00000514469.1:p.Gln1012ThrfsTer?
ENST00000699601.1:c.*1333dup	ENSP00000514470.1:n.*1333dup
ENST00000699602.1:c.3033dup	ENSP00000514471.1:p.Gln1012ThrfsTer?
ENST00000699604.1:c.*2857dup	ENSP00000514472.1:n.*2857dup
ENST00000699605.1:c.2607dup	ENSP00000514473.1:p.Gln870ThrfsTer?
ENST00000687278.1:c.624dup	ENSP00000509593.1:p.Gln209ThrfsTer?
ENST00000003084.11:c.3033dup MANE Select	ENSP00000003084.6:p.Gln1012ThrfsTer?
ENST00000647720.1:c.683dup
ENST00000648260.1:c.1815dup	ENSP00000497957.1:p.Gln606ThrfsTer?
ENST00000649406.1:c.2850dup	ENSP00000497965.1:p.Gln951ThrfsTer?
ENST00000649781.1:c.2850dup	ENSP00000497203.1:p.Gln951ThrfsTer?
ENST00000003084.10:c.3033dup	ENSP00000003084.6:p.Gln1012ThrfsTer?
ENST00000426809.5:c.2943dup	ENSP00000389119.1:p.Gln982ThrfsTer?
NM_000492.3:c.3033dup , LRG_663t1:c.3033dup	NP_000483.3:p.Gln1012ThrfsTer?
XM_011515751.1:c.3123dup	XP_011514053.1:p.Gln1042ThrfsTer?
XM_011515752.1:c.3123dup	XP_011514054.1:p.Gln1042ThrfsTer?
XM_011515753.1:c.2790dup	XP_011514055.1:p.Gln931ThrfsTer?
XM_011515754.1:c.2790dup	XP_011514056.1:p.Gln931ThrfsTer?
NM_000492.4:c.3033dup MANE Select	NP_000483.3:p.Gln1012ThrfsTer?