Canonical Allele Identifier: CA1737394274

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592109_117592110delinsGA , CM000669.2:g.117592109_117592110delinsGA	GRCh38
NC_000007.13:g.117232163_117232164delinsGA , CM000669.1:g.117232163_117232164delinsGA	GRCh37
NC_000007.12:g.117019399_117019400delinsGA	NCBI36
NG_016465.4:g.131326_131327delinsGA , LRG_663:g.131326_131327delinsGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.1942_1943delinsGA	ENSP00000497673.2:p.Asp648=
ENST00000647978.2:c.*1656_*1657delinsGA	ENSP00000497658.1:n.*1656_*1657delinsGA
ENST00000649781.2:c.1759_1760delinsGA	ENSP00000497203.1:p.Asp587=
ENST00000685018.2:c.1942_1943delinsGA	ENSP00000510194.2:p.Asp648=
ENST00000687278.2:c.1942_1943delinsGA	ENSP00000509593.2:p.Asp648=
ENST00000699585.1:c.1942_1943delinsGA	ENSP00000514456.1:p.Asp648=
ENST00000699598.1:c.1942_1943delinsGA	ENSP00000514467.1:p.Asp648=
ENST00000699599.1:c.1942_1943delinsGA	ENSP00000514468.1:p.Asp648=
ENST00000699600.1:c.1942_1943delinsGA	ENSP00000514469.1:p.Asp648=
ENST00000699601.1:c.*242_*243delinsGA	ENSP00000514470.1:n.*242_*243delinsGA
ENST00000699602.1:c.1942_1943delinsGA	ENSP00000514471.1:p.Asp648=
ENST00000699604.1:c.*1766_*1767delinsGA	ENSP00000514472.1:n.*1766_*1767delinsGA
ENST00000699605.1:c.1516_1517delinsGA	ENSP00000514473.1:p.Asp506=
ENST00000003084.11:c.1942_1943delinsGA MANE Select	ENSP00000003084.6:p.Asp648=
ENST00000647978.1:c.*1656_*1657delinsGA	ENSP00000497658.1:n.*1656_*1657delinsGA
ENST00000648260.1:c.1402-10717_1402-10716delinsGA	ENSP00000497957.1:n.1402-10717_1402-10716...
ENST00000649406.1:c.1759_1760delinsGA	ENSP00000497965.1:p.Asp587=
ENST00000649781.1:c.1759_1760delinsGA	ENSP00000497203.1:p.Asp587=
ENST00000003084.10:c.1942_1943delinsGA	ENSP00000003084.6:p.Asp648=
ENST00000426809.5:c.1852_1853delinsGA	ENSP00000389119.1:p.Asp618=
NM_000492.3:c.1942_1943delinsGA , LRG_663t1:c.1942_1943delinsGA	NP_000483.3:p.Asp648=
XM_011515751.1:c.2032_2033delinsGA	XP_011514053.1:p.Asp678=
XM_011515752.1:c.2032_2033delinsGA	XP_011514054.1:p.Asp678=
XM_011515753.1:c.1699_1700delinsGA	XP_011514055.1:p.Asp567=
XM_011515754.1:c.1699_1700delinsGA	XP_011514056.1:p.Asp567=
NM_000492.4:c.1942_1943delinsGA MANE Select	NP_000483.3:p.Asp648=