Canonical Allele Identifier: CA2695208529

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117595041delinsAT , CM000669.2:g.117595041delinsAT	GRCh38
NC_000007.13:g.117235095delinsAT , CM000669.1:g.117235095delinsAT	GRCh37
NC_000007.12:g.117022331delinsAT	NCBI36
NG_016465.4:g.134258delinsAT , LRG_663:g.134258delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2602delinsAT	ENSP00000497673.2:p.Val868IlefsTer28
ENST00000647978.2:c.*2316delinsAT	ENSP00000497658.1:n.*2316delinsAT
ENST00000649781.2:c.2419delinsAT	ENSP00000497203.1:p.Val807IlefsTer28
ENST00000685018.2:c.2602delinsAT	ENSP00000510194.2:p.Val868IlefsTer28
ENST00000687278.2:c.2602delinsAT	ENSP00000509593.2:p.Val868IlefsTer28
ENST00000699585.1:c.2602delinsAT	ENSP00000514456.1:p.Val868IlefsTer28
ENST00000699598.1:c.2602delinsAT	ENSP00000514467.1:p.Val868IlefsTer28
ENST00000699599.1:c.2602delinsAT	ENSP00000514468.1:p.Val868IlefsTer28
ENST00000699600.1:c.2602delinsAT	ENSP00000514469.1:p.Val868IlefsTer28
ENST00000699601.1:c.*902delinsAT	ENSP00000514470.1:n.*902delinsAT
ENST00000699602.1:c.2602delinsAT	ENSP00000514471.1:p.Val868IlefsTer28
ENST00000699604.1:c.*2426delinsAT	ENSP00000514472.1:n.*2426delinsAT
ENST00000699605.1:c.2176delinsAT	ENSP00000514473.1:p.Val726IlefsTer28
ENST00000687278.1:c.193delinsAT	ENSP00000509593.1:p.Val65IlefsTer28
ENST00000003084.11:c.2602delinsAT MANE Select	ENSP00000003084.6:p.Val868IlefsTer28
ENST00000647720.1:c.252delinsAT
ENST00000648260.1:c.1402-7785delinsAT	ENSP00000497957.1:n.1402-7785delinsAT
ENST00000649406.1:c.2419delinsAT	ENSP00000497965.1:p.Val807IlefsTer28
ENST00000649781.1:c.2419delinsAT	ENSP00000497203.1:p.Val807IlefsTer28
ENST00000003084.10:c.2602delinsAT	ENSP00000003084.6:p.Val868IlefsTer28
ENST00000426809.5:c.2512delinsAT	ENSP00000389119.1:p.Val838IlefsTer28
NM_000492.3:c.2602delinsAT , LRG_663t1:c.2602delinsAT	NP_000483.3:p.Val868IlefsTer28
XM_011515751.1:c.2692delinsAT	XP_011514053.1:p.Val898IlefsTer28
XM_011515752.1:c.2692delinsAT	XP_011514054.1:p.Val898IlefsTer28
XM_011515753.1:c.2359delinsAT	XP_011514055.1:p.Val787IlefsTer28
XM_011515754.1:c.2359delinsAT	XP_011514056.1:p.Val787IlefsTer28
NM_000492.4:c.2602delinsAT MANE Select	NP_000483.3:p.Val868IlefsTer28