Canonical Allele Identifier: CA2551247880

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117604971_117604972insAGAAATGTG , CM000669.2:g.117604971_117604972insAGAAATGTG	GRCh38
NC_000007.13:g.117245025_117245026insAGAAATGTG , CM000669.1:g.117245025_117245026insAGAAATGTG	GRCh37
NC_000007.12:g.117032261_117032262insAGAAATGTG	NCBI36
NG_016465.4:g.144188_144189insAGAAATGTG , LRG_663:g.144188_144189insAGAAATGTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2908+1189_2908+1190insAGAAATGTG	ENSP00000497673.2:n.2908+1189_2908+1190insAGAAATGTG
ENST00000647978.2:c.*2622+1189_*2622+1190insAGAAATGTG	ENSP00000497658.1:n.*2622+1189_*2622+1190insAGAAATGTG
ENST00000649781.2:c.2725+1189_2725+1190insAGAAATGTG	ENSP00000497203.1:n.2725+1189_2725+1190insAGAAATGTG
ENST00000685018.2:c.2908+1189_2908+1190insAGAAATGTG	ENSP00000510194.2:n.2908+1189_2908+1190insAGAAATGTG
ENST00000687278.2:c.2908+1189_2908+1190insAGAAATGTG	ENSP00000509593.2:n.2908+1189_2908+1190insAGAAATGTG
ENST00000699585.1:c.2908+1189_2908+1190insAGAAATGTG	ENSP00000514456.1:n.2908+1189_2908+1190insAGAAATGTG
ENST00000699598.1:c.2908+1189_2908+1190insAGAAATGTG	ENSP00000514467.1:n.2908+1189_2908+1190insAGAAATGTG
ENST00000699599.1:c.2908+1189_2908+1190insAGAAATGTG	ENSP00000514468.1:n.2908+1189_2908+1190insAGAAATGTG
ENST00000699600.1:c.2908+1189_2908+1190insAGAAATGTG	ENSP00000514469.1:n.2908+1189_2908+1190insAGAAATGTG
ENST00000699601.1:c.*1208+1189_*1208+1190insAGAAATGTG	ENSP00000514470.1:n.*1208+1189_*1208+1190insAGAAATGTG
ENST00000699602.1:c.2908+1189_2908+1190insAGAAATGTG	ENSP00000514471.1:n.2908+1189_2908+1190insAGAAATGTG
ENST00000699604.1:c.*2732+1189_*2732+1190insAGAAATGTG	ENSP00000514472.1:n.*2732+1189_*2732+1190insAGAAATGTG
ENST00000699605.1:c.2482+1189_2482+1190insAGAAATGTG	ENSP00000514473.1:n.2482+1189_2482+1190insAGAAATGTG
ENST00000687278.1:c.499+1189_499+1190insAGAAATGTG	ENSP00000509593.1:n.499+1189_499+1190insAGAAATGTG
ENST00000003084.11:c.2908+1189_2908+1190insAGAAATGTG MANE Select	ENSP00000003084.6:n.2908+1189_2908+1190insAGAAATGTG
ENST00000647720.1:c.558+1189_558+1190insAGAAATGTG
ENST00000648260.1:c.1690+1189_1690+1190insAGAAATGTG	ENSP00000497957.1:n.1690+1189_1690+1190insAGAAATGTG
ENST00000649406.1:c.2725+1189_2725+1190insAGAAATGTG	ENSP00000497965.1:n.2725+1189_2725+1190insAGAAATGTG
ENST00000649781.1:c.2725+1189_2725+1190insAGAAATGTG	ENSP00000497203.1:n.2725+1189_2725+1190insAGAAATGTG
ENST00000003084.10:c.2908+1189_2908+1190insAGAAATGTG	ENSP00000003084.6:n.2908+1189_2908+1190insAGAAATGTG
ENST00000426809.5:c.2818+1189_2818+1190insAGAAATGTG	ENSP00000389119.1:n.2818+1189_2818+1190insAGAAATGTG
NM_000492.3:c.2908+1189_2908+1190insAGAAATGTG , LRG_663t1:c.2908+1189_2908+1190insAGAAATGTG	NP_000483.3:n.2908+1189_2908+1190insAGAAATGTG
XM_011515751.1:c.2998+1189_2998+1190insAGAAATGTG	XP_011514053.1:n.2998+1189_2998+1190insAGAAATGTG
XM_011515752.1:c.2998+1189_2998+1190insAGAAATGTG	XP_011514054.1:n.2998+1189_2998+1190insAGAAATGTG
XM_011515753.1:c.2665+1189_2665+1190insAGAAATGTG	XP_011514055.1:n.2665+1189_2665+1190insAGAAATGTG
XM_011515754.1:c.2665+1189_2665+1190insAGAAATGTG	XP_011514056.1:n.2665+1189_2665+1190insAGAAATGTG
NM_000492.4:c.2908+1189_2908+1190insAGAAATGTG MANE Select	NP_000483.3:n.2908+1189_2908+1190insAGAAATGTG