Canonical Allele Identifier: CA1737398615

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627547_117627548delinsAG , CM000669.2:g.117627547_117627548delinsAG	GRCh38
NC_000007.13:g.117267601_117267602delinsAG , CM000669.1:g.117267601_117267602delinsAG	GRCh37
NC_000007.12:g.117054837_117054838delinsAG	NCBI36
NG_016465.4:g.166764_166765delinsAG , LRG_663:g.166764_166765delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3494_3495delinsAG	ENSP00000497673.2:p.Lys1165=
ENST00000647978.2:c.*3208_*3209delinsAG	ENSP00000497658.1:n.*3208_*3209delinsAG
ENST00000649781.2:c.3311_3312delinsAG	ENSP00000497203.1:p.Lys1104=
ENST00000685018.2:c.3494_3495delinsAG	ENSP00000510194.2:p.Lys1165=
ENST00000687278.2:c.*147_*148delinsAG	ENSP00000509593.2:n.*147_*148delinsAG
ENST00000699585.1:c.3494_3495delinsAG	ENSP00000514456.1:p.Lys1165=
ENST00000699598.1:c.3494_3495delinsAG	ENSP00000514467.1:p.Lys1165=
ENST00000699599.1:c.3494_3495delinsAG	ENSP00000514468.1:p.Lys1165=
ENST00000699600.1:c.*155_*156delinsAG	ENSP00000514469.1:n.*155_*156delinsAG
ENST00000699601.1:c.*1869_*1870delinsAG	ENSP00000514470.1:n.*1869_*1870delinsAG
ENST00000699602.1:c.3488_3489delinsAG	ENSP00000514471.1:p.Lys1163=
ENST00000699604.1:c.*3318_*3319delinsAG	ENSP00000514472.1:n.*3318_*3319delinsAG
ENST00000699605.1:c.3068_3069delinsAG	ENSP00000514473.1:p.Lys1023=
ENST00000685018.1:c.242_243delinsAG	ENSP00000510194.1:p.Lys81=
ENST00000687278.1:c.1281_1282delinsAG	ENSP00000509593.1:n.1281_1282delinsAG
ENST00000689011.1:c.76_77delinsAG
ENST00000003084.11:c.3494_3495delinsAG MANE Select	ENSP00000003084.6:p.Lys1165=
ENST00000647720.1:c.1144_1145delinsAG
ENST00000648260.1:c.2276_2277delinsAG	ENSP00000497957.1:p.Lys759=
ENST00000649406.1:c.3311_3312delinsAG	ENSP00000497965.1:p.Lys1104=
ENST00000649781.1:c.3311_3312delinsAG	ENSP00000497203.1:p.Lys1104=
ENST00000003084.10:c.3494_3495delinsAG	ENSP00000003084.6:p.Lys1165=
ENST00000426809.5:c.3404_3405delinsAG	ENSP00000389119.1:p.Lys1135=
ENST00000468795.1:c.319_320delinsAG
NM_000492.3:c.3494_3495delinsAG , LRG_663t1:c.3494_3495delinsAG	NP_000483.3:p.Lys1165=
XM_011515751.1:c.3584_3585delinsAG	XP_011514053.1:p.Lys1195=
XM_011515752.1:c.3584_3585delinsAG	XP_011514054.1:p.Lys1195=
XM_011515753.1:c.3251_3252delinsAG	XP_011514055.1:p.Lys1084=
XM_011515754.1:c.3251_3252delinsAG	XP_011514056.1:p.Lys1084=
NM_000492.4:c.3494_3495delinsAG MANE Select	NP_000483.3:p.Lys1165=