Canonical Allele Identifier: CA2540578824

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642828_117642829insGAATTTGAG , CM000669.2:g.117642828_117642829insGAATTTGAG	GRCh38
NC_000007.13:g.117282882_117282883insGAATTTGAG , CM000669.1:g.117282882_117282883insGAATTTGAG	GRCh37
NC_000007.12:g.117070118_117070119insGAATTTGAG	NCBI36
NG_016465.4:g.182045_182046insGAATTTGAG , LRG_663:g.182045_182046insGAATTTGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*82+235_*82+236insGAATTTGAG	ENSP00000497673.2:n.*82+235_*82+236insGAATTTGAG
ENST00000647978.2:c.*3587+235_*3587+236insGAATTTGAG	ENSP00000497658.1:n.*3587+235_*3587+236insGAATTTGAG
ENST00000649781.2:c.3690+235_3690+236insGAATTTGAG	ENSP00000497203.1:n.3690+235_3690+236insGAATTTGAG
ENST00000685018.2:c.3874-40_3874-39insGAATTTGAG	ENSP00000510194.2:n.3874-40_3874-39insGAATTTGAG
ENST00000687278.2:c.*526+235_*526+236insGAATTTGAG	ENSP00000509593.2:n.*526+235_*526+236insGAATTTGAG
ENST00000699585.1:c.*82+235_*82+236insGAATTTGAG	ENSP00000514456.1:n.*82+235_*82+236insGAATTTGAG
ENST00000699598.1:c.3873+235_3873+236insGAATTTGAG	ENSP00000514467.1:n.3873+235_3873+236insGAATTTGAG
ENST00000699599.1:c.3874-40_3874-39insGAATTTGAG	ENSP00000514468.1:n.3874-40_3874-39insGAATTTGAG
ENST00000699600.1:c.*534+235_*534+236insGAATTTGAG	ENSP00000514469.1:n.*534+235_*534+236insGAATTTGAG
ENST00000699601.1:c.*2248+235_*2248+236insGAATTTGAG	ENSP00000514470.1:n.*2248+235_*2248+236insGAATTTGAG
ENST00000699602.1:c.3867+235_3867+236insGAATTTGAG	ENSP00000514471.1:n.3867+235_3867+236insGAATTTGAG
ENST00000699604.1:c.*3697+235_*3697+236insGAATTTGAG	ENSP00000514472.1:n.*3697+235_*3697+236insGAATTTGAG
ENST00000699605.1:c.3447+235_3447+236insGAATTTGAG	ENSP00000514473.1:n.3447+235_3447+236insGAATTTGAG
ENST00000685018.1:c.622-40_622-39insGAATTTGAG	ENSP00000510194.1:n.622-40_622-39insGAATTTGAG
ENST00000687278.1:c.1660+235_1660+236insGAATTTGAG	ENSP00000509593.1:n.1660+235_1660+236insGAATTTGAG
ENST00000689011.1:c.455+235_455+236insGAATTTGAG
ENST00000003084.11:c.3873+235_3873+236insGAATTTGAG MANE Select	ENSP00000003084.6:n.3873+235_3873+236insGAATTTGAG
ENST00000647720.1:c.1323+235_1323+236insGAATTTGAG
ENST00000649781.1:c.3690+235_3690+236insGAATTTGAG	ENSP00000497203.1:n.3690+235_3690+236insGAATTTGAG
ENST00000003084.10:c.3873+235_3873+236insGAATTTGAG	ENSP00000003084.6:n.3873+235_3873+236insGAATTTGAG
ENST00000426809.5:c.3783+235_3783+236insGAATTTGAG	ENSP00000389119.1:n.3783+235_3783+236insGAATTTGAG
NM_000492.3:c.3873+235_3873+236insGAATTTGAG , LRG_663t1:c.3873+235_3873+236insGAATTTGAG	NP_000483.3:n.3873+235_3873+236insGAATTTGAG
XM_011515751.1:c.3963+235_3963+236insGAATTTGAG	XP_011514053.1:n.3963+235_3963+236insGAATTTGAG
XM_011515752.1:c.3963+235_3963+236insGAATTTGAG	XP_011514054.1:n.3963+235_3963+236insGAATTTGAG
XM_011515753.1:c.3630+235_3630+236insGAATTTGAG	XP_011514055.1:n.3630+235_3630+236insGAATTTGAG
XM_011515754.1:c.3630+235_3630+236insGAATTTGAG	XP_011514056.1:n.3630+235_3630+236insGAATTTGAG
NM_000492.4:c.3873+235_3873+236insGAATTTGAG MANE Select	NP_000483.3:n.3873+235_3873+236insGAATTTGAG