Canonical Allele Identifier: CA2695208527

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592657_117592658insT , CM000669.2:g.117592657_117592658insT	GRCh38
NC_000007.13:g.117232711_117232712insT , CM000669.1:g.117232711_117232712insT	GRCh37
NC_000007.12:g.117019947_117019948insT	NCBI36
NG_016465.4:g.131874_131875insT , LRG_663:g.131874_131875insT

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2490_2490+1insT	ENSP00000497673.2:n.2490_2490+1insT
ENST00000647978.2:c.*2204_*2204+1insT	ENSP00000497658.1:n.*2204_*2204+1insT
ENST00000649781.2:c.2307_2307+1insT	ENSP00000497203.1:n.2307_2307+1insT
ENST00000685018.2:c.2490_2490+1insT	ENSP00000510194.2:n.2490_2490+1insT
ENST00000687278.2:c.2490_2490+1insT	ENSP00000509593.2:n.2490_2490+1insT
ENST00000699585.1:c.2490_2490+1insT	ENSP00000514456.1:n.2490_2490+1insT
ENST00000699598.1:c.2490_2490+1insT	ENSP00000514467.1:n.2490_2490+1insT
ENST00000699599.1:c.2490_2490+1insT	ENSP00000514468.1:n.2490_2490+1insT
ENST00000699600.1:c.2490_2490+1insT	ENSP00000514469.1:n.2490_2490+1insT
ENST00000699601.1:c.*790_*790+1insT	ENSP00000514470.1:n.*790_*790+1insT
ENST00000699602.1:c.2490_2490+1insT	ENSP00000514471.1:n.2490_2490+1insT
ENST00000699604.1:c.*2314_*2314+1insT	ENSP00000514472.1:n.*2314_*2314+1insT
ENST00000699605.1:c.2064_2064+1insT	ENSP00000514473.1:n.2064_2064+1insT
ENST00000687278.1:c.81_81+1insT	ENSP00000509593.1:n.81_81+1insT
ENST00000003084.11:c.2490_2490+1insT MANE Select	ENSP00000003084.6:n.2490_2490+1insT
ENST00000647720.1:c.140_140+1insT
ENST00000647978.1:c.*2204_*2204+1insT	ENSP00000497658.1:n.*2204_*2204+1insT
ENST00000648260.1:c.1402-10169_1402-10168insT	ENSP00000497957.1:n.1402-10169_1402-10168...
ENST00000649406.1:c.2307_2307+1insT	ENSP00000497965.1:n.2307_2307+1insT
ENST00000649781.1:c.2307_2307+1insT	ENSP00000497203.1:n.2307_2307+1insT
ENST00000003084.10:c.2490_2490+1insT	ENSP00000003084.6:n.2490_2490+1insT
ENST00000426809.5:c.2400_2400+1insT	ENSP00000389119.1:n.2400_2400+1insT
NM_000492.3:c.2490_2490+1insT , LRG_663t1:c.2490_2490+1insT	NP_000483.3:n.2490_2490+1insT
XM_011515751.1:c.2580_2580+1insT	XP_011514053.1:n.2580_2580+1insT
XM_011515752.1:c.2580_2580+1insT	XP_011514054.1:n.2580_2580+1insT
XM_011515753.1:c.2247_2247+1insT	XP_011514055.1:n.2247_2247+1insT
XM_011515754.1:c.2247_2247+1insT	XP_011514056.1:n.2247_2247+1insT
NM_000492.4:c.2490_2490+1insT MANE Select	NP_000483.3:n.2490_2490+1insT