Canonical Allele Identifier: CA645541507

Gene: CFTR

Linked Data

• COSMIC: COSM5871659

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592595_117592596delinsGA , CM000669.2:g.117592595_117592596delinsGA	GRCh38
NC_000007.13:g.117232649_117232650delinsGA , CM000669.1:g.117232649_117232650delinsGA	GRCh37
NC_000007.12:g.117019885_117019886delinsGA	NCBI36
NG_016465.4:g.131812_131813delinsGA , LRG_663:g.131812_131813delinsGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2428_2429delinsGA	ENSP00000497673.2:p.Arg810Glu
ENST00000647978.2:c.*2142_*2143delinsGA	ENSP00000497658.1:n.*2142_*2143delinsGA
ENST00000649781.2:c.2245_2246delinsGA	ENSP00000497203.1:p.Arg749Glu
ENST00000685018.2:c.2428_2429delinsGA	ENSP00000510194.2:p.Arg810Glu
ENST00000687278.2:c.2428_2429delinsGA	ENSP00000509593.2:p.Arg810Glu
ENST00000699585.1:c.2428_2429delinsGA	ENSP00000514456.1:p.Arg810Glu
ENST00000699598.1:c.2428_2429delinsGA	ENSP00000514467.1:p.Arg810Glu
ENST00000699599.1:c.2428_2429delinsGA	ENSP00000514468.1:p.Arg810Glu
ENST00000699600.1:c.2428_2429delinsGA	ENSP00000514469.1:p.Arg810Glu
ENST00000699601.1:c.*728_*729delinsGA	ENSP00000514470.1:n.*728_*729delinsGA
ENST00000699602.1:c.2428_2429delinsGA	ENSP00000514471.1:p.Arg810Glu
ENST00000699604.1:c.*2252_*2253delinsGA	ENSP00000514472.1:n.*2252_*2253delinsGA
ENST00000699605.1:c.2002_2003delinsGA	ENSP00000514473.1:p.Arg668Glu
ENST00000687278.1:c.19_20delinsGA	ENSP00000509593.1:p.Arg7Glu
ENST00000003084.11:c.2428_2429delinsGA MANE Select	ENSP00000003084.6:p.Arg810Glu
ENST00000647720.1:c.78_79delinsGA
ENST00000647978.1:c.*2142_*2143delinsGA	ENSP00000497658.1:n.*2142_*2143delinsGA
ENST00000648260.1:c.1402-10231_1402-10230delinsGA	ENSP00000497957.1:n.1402-10231_1402-10230...
ENST00000649406.1:c.2245_2246delinsGA	ENSP00000497965.1:p.Arg749Glu
ENST00000649781.1:c.2245_2246delinsGA	ENSP00000497203.1:p.Arg749Glu
ENST00000003084.10:c.2428_2429delinsGA	ENSP00000003084.6:p.Arg810Glu
ENST00000426809.5:c.2338_2339delinsGA	ENSP00000389119.1:p.Arg780Glu
NM_000492.3:c.2428_2429delinsGA , LRG_663t1:c.2428_2429delinsGA	NP_000483.3:p.Arg810Glu
XM_011515751.1:c.2518_2519delinsGA	XP_011514053.1:p.Arg840Glu
XM_011515752.1:c.2518_2519delinsGA	XP_011514054.1:p.Arg840Glu
XM_011515753.1:c.2185_2186delinsGA	XP_011514055.1:p.Arg729Glu
XM_011515754.1:c.2185_2186delinsGA	XP_011514056.1:p.Arg729Glu
NM_000492.4:c.2428_2429delinsGA MANE Select	NP_000483.3:p.Arg810Glu