Canonical Allele Identifier: CA1737327071

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117536579_117536580delinsCT , CM000669.2:g.117536579_117536580delinsCT	GRCh38
NC_000007.13:g.117176633_117176634delinsCT , CM000669.1:g.117176633_117176634delinsCT	GRCh37
NC_000007.12:g.116963869_116963870delinsCT	NCBI36
NG_016465.4:g.75796_75797delinsCT , LRG_663:g.75796_75797delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.775_776delinsCT	ENSP00000497673.2:p.Leu259=
ENST00000647978.2:c.*672_*673delinsCT	ENSP00000497658.1:n.*672_*673delinsCT
ENST00000649781.2:c.775_776delinsCT	ENSP00000497203.1:p.Leu259=
ENST00000685018.2:c.775_776delinsCT	ENSP00000510194.2:p.Leu259=
ENST00000687278.2:c.775_776delinsCT	ENSP00000509593.2:p.Leu259=
ENST00000699585.1:c.775_776delinsCT	ENSP00000514456.1:p.Leu259=
ENST00000699596.1:c.775_776delinsCT	ENSP00000514465.1:p.Leu259=
ENST00000699597.1:c.775_776delinsCT	ENSP00000514466.1:p.Leu259=
ENST00000699598.1:c.775_776delinsCT	ENSP00000514467.1:p.Leu259=
ENST00000699599.1:c.775_776delinsCT	ENSP00000514468.1:p.Leu259=
ENST00000699600.1:c.775_776delinsCT	ENSP00000514469.1:p.Leu259=
ENST00000699601.1:c.775_776delinsCT	ENSP00000514470.1:p.Leu259=
ENST00000699602.1:c.775_776delinsCT	ENSP00000514471.1:p.Leu259=
ENST00000699604.1:c.*599_*600delinsCT	ENSP00000514472.1:n.*599_*600delinsCT
ENST00000699605.1:c.532_533delinsCT	ENSP00000514473.1:p.Leu178=
ENST00000003084.11:c.775_776delinsCT MANE Select	ENSP00000003084.6:p.Leu259=
ENST00000647978.1:c.*672_*673delinsCT	ENSP00000497658.1:n.*672_*673delinsCT
ENST00000648260.1:c.775_776delinsCT	ENSP00000497957.1:p.Leu259=
ENST00000649406.1:c.775_776delinsCT	ENSP00000497965.1:p.Leu259=
ENST00000649781.1:c.775_776delinsCT	ENSP00000497203.1:p.Leu259=
ENST00000673785.1:c.532_533delinsCT	ENSP00000501235.1:p.Leu178=
ENST00000003084.10:c.775_776delinsCT	ENSP00000003084.6:p.Leu259=
ENST00000426809.5:c.685_686delinsCT	ENSP00000389119.1:p.Leu229=
NM_000492.3:c.775_776delinsCT , LRG_663t1:c.775_776delinsCT	NP_000483.3:p.Leu259=
XM_011515751.1:c.865_866delinsCT	XP_011514053.1:p.Leu289=
XM_011515752.1:c.865_866delinsCT	XP_011514054.1:p.Leu289=
XM_011515753.1:c.532_533delinsCT	XP_011514055.1:p.Leu178=
XM_011515754.1:c.532_533delinsCT	XP_011514056.1:p.Leu178=
NM_000492.4:c.775_776delinsCT MANE Select	NP_000483.3:p.Leu259=