Canonical Allele Identifier: CA1737363351

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117624563_117624564delinsGA , CM000669.2:g.117624563_117624564delinsGA	GRCh38
NC_000007.13:g.117264617_117264618delinsGA , CM000669.1:g.117264617_117264618delinsGA	GRCh37
NC_000007.12:g.117051853_117051854delinsGA	NCBI36
NG_016465.4:g.163780_163781delinsGA , LRG_663:g.163780_163781delinsGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3469-2959_3469-2958delinsGA	ENSP00000497673.2:n.3469-2959_3469-2958delinsGA
ENST00000647978.2:c.*3183-2959_*3183-2958delinsGA	ENSP00000497658.1:n.*3183-2959_*3183-2958delinsGA
ENST00000649781.2:c.3286-2959_3286-2958delinsGA	ENSP00000497203.1:n.3286-2959_3286-2958delinsGA
ENST00000685018.2:c.3469-2959_3469-2958delinsGA	ENSP00000510194.2:n.3469-2959_3469-2958delinsGA
ENST00000687278.2:c.3469-1441_3469-1440delinsGA	ENSP00000509593.2:n.3469-1441_3469-1440delinsGA
ENST00000699585.1:c.3469-2959_3469-2958delinsGA	ENSP00000514456.1:n.3469-2959_3469-2958delinsGA
ENST00000699598.1:c.3469-2959_3469-2958delinsGA	ENSP00000514467.1:n.3469-2959_3469-2958delinsGA
ENST00000699599.1:c.3469-2959_3469-2958delinsGA	ENSP00000514468.1:n.3469-2959_3469-2958delinsGA
ENST00000699600.1:c.3469-1441_3469-1440delinsGA	ENSP00000514469.1:n.3469-1441_3469-1440delinsGA
ENST00000699601.1:c.*1844-2959_*1844-2958delinsGA	ENSP00000514470.1:n.*1844-2959_*1844-2958delinsGA
ENST00000699602.1:c.3463-2959_3463-2958delinsGA	ENSP00000514471.1:n.3463-2959_3463-2958delinsGA
ENST00000699604.1:c.*3293-2959_*3293-2958delinsGA	ENSP00000514472.1:n.*3293-2959_*3293-2958delinsGA
ENST00000699605.1:c.3043-2959_3043-2958delinsGA	ENSP00000514473.1:n.3043-2959_3043-2958delinsGA
ENST00000685018.1:c.217-2959_217-2958delinsGA	ENSP00000510194.1:n.217-2959_217-2958delinsGA
ENST00000687278.1:c.1060-1441_1060-1440delinsGA	ENSP00000509593.1:n.1060-1441_1060-1440delinsGA
ENST00000689011.1:c.51-2959_51-2958delinsGA
ENST00000003084.11:c.3469-2959_3469-2958delinsGA MANE Select	ENSP00000003084.6:n.3469-2959_3469-2958delinsGA
ENST00000647720.1:c.1119-2959_1119-2958delinsGA
ENST00000648260.1:c.2251-2959_2251-2958delinsGA	ENSP00000497957.1:n.2251-2959_2251-2958delinsGA
ENST00000649406.1:c.3286-2959_3286-2958delinsGA	ENSP00000497965.1:n.3286-2959_3286-2958delinsGA
ENST00000649781.1:c.3286-2959_3286-2958delinsGA	ENSP00000497203.1:n.3286-2959_3286-2958delinsGA
ENST00000003084.10:c.3469-2959_3469-2958delinsGA	ENSP00000003084.6:n.3469-2959_3469-2958delinsGA
ENST00000426809.5:c.3379-2959_3379-2958delinsGA	ENSP00000389119.1:n.3379-2959_3379-2958delinsGA
ENST00000468795.1:c.294-2959_294-2958delinsGA
NM_000492.3:c.3469-2959_3469-2958delinsGA , LRG_663t1:c.3469-2959_3469-2958delinsGA	NP_000483.3:n.3469-2959_3469-2958delinsGA
XM_011515751.1:c.3559-2959_3559-2958delinsGA	XP_011514053.1:n.3559-2959_3559-2958delinsGA
XM_011515752.1:c.3559-2959_3559-2958delinsGA	XP_011514054.1:n.3559-2959_3559-2958delinsGA
XM_011515753.1:c.3226-2959_3226-2958delinsGA	XP_011514055.1:n.3226-2959_3226-2958delinsGA
XM_011515754.1:c.3226-2959_3226-2958delinsGA	XP_011514056.1:n.3226-2959_3226-2958delinsGA
NM_000492.4:c.3469-2959_3469-2958delinsGA MANE Select	NP_000483.3:n.3469-2959_3469-2958delinsGA