Canonical Allele Identifier: CA2579000229

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603564_117603565insGTACTATGAG , CM000669.2:g.117603564_117603565insGTACTATGAG	GRCh38
NC_000007.13:g.117243618_117243619insGTACTATGAG , CM000669.1:g.117243618_117243619insGTACTATGAG	GRCh37
NC_000007.12:g.117030854_117030855insGTACTATGAG	NCBI36
NG_016465.4:g.142781_142782insGTACTATGAG , LRG_663:g.142781_142782insGTACTATGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2690_2691insGTACTATGAG	ENSP00000497673.2:p.His897GlnfsTer5
ENST00000647978.2:c.*2404_*2405insGTACTATGAG	ENSP00000497658.1:n.*2404_*2405insGTACTATGAG
ENST00000649781.2:c.2507_2508insGTACTATGAG	ENSP00000497203.1:p.His836GlnfsTer5
ENST00000685018.2:c.2690_2691insGTACTATGAG	ENSP00000510194.2:p.His897GlnfsTer5
ENST00000687278.2:c.2690_2691insGTACTATGAG	ENSP00000509593.2:p.His897GlnfsTer5
ENST00000699585.1:c.2690_2691insGTACTATGAG	ENSP00000514456.1:p.His897GlnfsTer5
ENST00000699598.1:c.2690_2691insGTACTATGAG	ENSP00000514467.1:p.His897GlnfsTer5
ENST00000699599.1:c.2690_2691insGTACTATGAG	ENSP00000514468.1:p.His897GlnfsTer5
ENST00000699600.1:c.2690_2691insGTACTATGAG	ENSP00000514469.1:p.His897GlnfsTer5
ENST00000699601.1:c.*990_*991insGTACTATGAG	ENSP00000514470.1:n.*990_*991insGTACTATGAG
ENST00000699602.1:c.2690_2691insGTACTATGAG	ENSP00000514471.1:p.His897GlnfsTer5
ENST00000699604.1:c.*2514_*2515insGTACTATGAG	ENSP00000514472.1:n.*2514_*2515insGTACTATGAG
ENST00000699605.1:c.2264_2265insGTACTATGAG	ENSP00000514473.1:p.His755GlnfsTer5
ENST00000687278.1:c.281_282insGTACTATGAG	ENSP00000509593.1:p.His94GlnfsTer5
ENST00000003084.11:c.2690_2691insGTACTATGAG MANE Select	ENSP00000003084.6:p.His897GlnfsTer5
ENST00000647720.1:c.340_341insGTACTATGAG
ENST00000648260.1:c.1472_1473insGTACTATGAG	ENSP00000497957.1:p.His491GlnfsTer5
ENST00000649406.1:c.2507_2508insGTACTATGAG	ENSP00000497965.1:p.His836GlnfsTer5
ENST00000649781.1:c.2507_2508insGTACTATGAG	ENSP00000497203.1:p.His836GlnfsTer5
ENST00000003084.10:c.2690_2691insGTACTATGAG	ENSP00000003084.6:p.His897GlnfsTer5
ENST00000426809.5:c.2600_2601insGTACTATGAG	ENSP00000389119.1:p.His867GlnfsTer5
NM_000492.3:c.2690_2691insGTACTATGAG , LRG_663t1:c.2690_2691insGTACTATGAG	NP_000483.3:p.His897GlnfsTer5
XM_011515751.1:c.2780_2781insGTACTATGAG	XP_011514053.1:p.His927GlnfsTer5
XM_011515752.1:c.2780_2781insGTACTATGAG	XP_011514054.1:p.His927GlnfsTer5
XM_011515753.1:c.2447_2448insGTACTATGAG	XP_011514055.1:p.His816GlnfsTer5
XM_011515754.1:c.2447_2448insGTACTATGAG	XP_011514056.1:p.His816GlnfsTer5
NM_000492.4:c.2690_2691insGTACTATGAG MANE Select	NP_000483.3:p.His897GlnfsTer5