Canonical Allele Identifier: CA2500746570

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117614296_117614297insCGGTAACATA , CM000669.2:g.117614296_117614297insCGGTAACATA	GRCh38
NC_000007.13:g.117254350_117254351insCGGTAACATA , CM000669.1:g.117254350_117254351insCGGTAACATA	GRCh37
NC_000007.12:g.117041586_117041587insCGGTAACATA	NCBI36
NG_016465.4:g.153513_153514insCGGTAACATA , LRG_663:g.153513_153514insCGGTAACATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3368-317_3368-316insCGGTAACATA	ENSP00000497673.2:n.3368-317_3368-316insCGGTAACATA
ENST00000647978.2:c.*3082-317_*3082-316insCGGTAACATA	ENSP00000497658.1:n.*3082-317_*3082-316insCGGTAACATA
ENST00000649781.2:c.3185-317_3185-316insCGGTAACATA	ENSP00000497203.1:n.3185-317_3185-316insCGGTAACATA
ENST00000685018.2:c.3368-317_3368-316insCGGTAACATA	ENSP00000510194.2:n.3368-317_3368-316insCGGTAACATA
ENST00000687278.2:c.3368-317_3368-316insCGGTAACATA	ENSP00000509593.2:n.3368-317_3368-316insCGGTAACATA
ENST00000699585.1:c.3368-317_3368-316insCGGTAACATA	ENSP00000514456.1:n.3368-317_3368-316insCGGTAACATA
ENST00000699598.1:c.3368-317_3368-316insCGGTAACATA	ENSP00000514467.1:n.3368-317_3368-316insCGGTAACATA
ENST00000699599.1:c.3368-317_3368-316insCGGTAACATA	ENSP00000514468.1:n.3368-317_3368-316insCGGTAACATA
ENST00000699600.1:c.3368-317_3368-316insCGGTAACATA	ENSP00000514469.1:n.3368-317_3368-316insCGGTAACATA
ENST00000699601.1:c.*1668-242_*1668-241insCGGTAACATA	ENSP00000514470.1:n.*1668-242_*1668-241insCGGTAACATA
ENST00000699602.1:c.3368-323_3368-322insCGGTAACATA	ENSP00000514471.1:n.3368-323_3368-322insCGGTAACATA
ENST00000699604.1:c.*3192-317_*3192-316insCGGTAACATA	ENSP00000514472.1:n.*3192-317_*3192-316insCGGTAACATA
ENST00000699605.1:c.2942-317_2942-316insCGGTAACATA	ENSP00000514473.1:n.2942-317_2942-316insCGGTAACATA
ENST00000685018.1:c.116-317_116-316insCGGTAACATA	ENSP00000510194.1:n.116-317_116-316insCGGTAACATA
ENST00000687278.1:c.959-317_959-316insCGGTAACATA	ENSP00000509593.1:n.959-317_959-316insCGGTAACATA
ENST00000003084.11:c.3368-317_3368-316insCGGTAACATA MANE Select	ENSP00000003084.6:n.3368-317_3368-316insCGGTAACATA
ENST00000647720.1:c.1018-317_1018-316insCGGTAACATA
ENST00000648260.1:c.2150-317_2150-316insCGGTAACATA	ENSP00000497957.1:n.2150-317_2150-316insCGGTAACATA
ENST00000649406.1:c.3185-317_3185-316insCGGTAACATA	ENSP00000497965.1:n.3185-317_3185-316insCGGTAACATA
ENST00000649781.1:c.3185-317_3185-316insCGGTAACATA	ENSP00000497203.1:n.3185-317_3185-316insCGGTAACATA
ENST00000003084.10:c.3368-317_3368-316insCGGTAACATA	ENSP00000003084.6:n.3368-317_3368-316insCGGTAACATA
ENST00000426809.5:c.3278-317_3278-316insCGGTAACATA	ENSP00000389119.1:n.3278-317_3278-316insCGGTAACATA
ENST00000468795.1:c.193-317_193-316insCGGTAACATA
NM_000492.3:c.3368-317_3368-316insCGGTAACATA , LRG_663t1:c.3368-317_3368-316insCGGTAACATA	NP_000483.3:n.3368-317_3368-316insCGGTAACATA
XM_011515751.1:c.3458-317_3458-316insCGGTAACATA	XP_011514053.1:n.3458-317_3458-316insCGGTAACATA
XM_011515752.1:c.3458-317_3458-316insCGGTAACATA	XP_011514054.1:n.3458-317_3458-316insCGGTAACATA
XM_011515753.1:c.3125-317_3125-316insCGGTAACATA	XP_011514055.1:n.3125-317_3125-316insCGGTAACATA
XM_011515754.1:c.3125-317_3125-316insCGGTAACATA	XP_011514056.1:n.3125-317_3125-316insCGGTAACATA
NM_000492.4:c.3368-317_3368-316insCGGTAACATA MANE Select	NP_000483.3:n.3368-317_3368-316insCGGTAACATA