Canonical Allele Identifier: CA1737392287

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117590373_117590374delinsAT , CM000669.2:g.117590373_117590374delinsAT	GRCh38
NC_000007.13:g.117230427_117230428delinsAT , CM000669.1:g.117230427_117230428delinsAT	GRCh37
NC_000007.12:g.117017663_117017664delinsAT	NCBI36
NG_016465.4:g.129590_129591delinsAT , LRG_663:g.129590_129591delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1700_1701delinsAT	ENSP00000497673.2:p.Asp567=
ENST00000647978.2:c.*1414_*1415delinsAT	ENSP00000497658.1:n.*1414_*1415delinsAT
ENST00000649781.2:c.1517_1518delinsAT	ENSP00000497203.1:p.Asp506=
ENST00000685018.2:c.1700_1701delinsAT	ENSP00000510194.2:p.Asp567=
ENST00000687278.2:c.1700_1701delinsAT	ENSP00000509593.2:p.Asp567=
ENST00000699585.1:c.1700_1701delinsAT	ENSP00000514456.1:p.Asp567=
ENST00000699598.1:c.1700_1701delinsAT	ENSP00000514467.1:p.Asp567=
ENST00000699599.1:c.1700_1701delinsAT	ENSP00000514468.1:p.Asp567=
ENST00000699600.1:c.1700_1701delinsAT	ENSP00000514469.1:p.Asp567=
ENST00000699601.1:c.1695_*1delinsAT	ENSP00000514470.1:n.[c.1695_*1delinsAT;Ter565=]
ENST00000699602.1:c.1700_1701delinsAT	ENSP00000514471.1:p.Asp567=
ENST00000699604.1:c.*1524_*1525delinsAT	ENSP00000514472.1:n.*1524_*1525delinsAT
ENST00000699605.1:c.1274_1275delinsAT	ENSP00000514473.1:p.Asp425=
ENST00000003084.11:c.1700_1701delinsAT MANE Select	ENSP00000003084.6:p.Asp567=
ENST00000647978.1:c.*1414_*1415delinsAT	ENSP00000497658.1:n.*1414_*1415delinsAT
ENST00000648260.1:c.1402-12453_1402-12452delinsAT	ENSP00000497957.1:n.1402-12453_1402-12452delinsAT
ENST00000649406.1:c.1517_1518delinsAT	ENSP00000497965.1:p.Asp506=
ENST00000649781.1:c.1517_1518delinsAT	ENSP00000497203.1:p.Asp506=
ENST00000003084.10:c.1700_1701delinsAT	ENSP00000003084.6:p.Asp567=
ENST00000426809.5:c.1610_1611delinsAT	ENSP00000389119.1:p.Asp537=
NM_000492.3:c.1700_1701delinsAT , LRG_663t1:c.1700_1701delinsAT	NP_000483.3:p.Asp567=
XM_011515751.1:c.1790_1791delinsAT	XP_011514053.1:p.Asp597=
XM_011515752.1:c.1790_1791delinsAT	XP_011514054.1:p.Asp597=
XM_011515753.1:c.1457_1458delinsAT	XP_011514055.1:p.Asp486=
XM_011515754.1:c.1457_1458delinsAT	XP_011514056.1:p.Asp486=
NM_000492.4:c.1700_1701delinsAT MANE Select	NP_000483.3:p.Asp567=