Canonical Allele Identifier: CA1737404929

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642851_117642853delinsCTT , CM000669.2:g.117642851_117642853delinsCTT	GRCh38
NC_000007.13:g.117282905_117282907delinsCTT , CM000669.1:g.117282905_117282907delinsCTT	GRCh37
NC_000007.12:g.117070141_117070143delinsCTT	NCBI36
NG_016465.4:g.182068_182070delinsCTT , LRG_663:g.182068_182070delinsCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*82+258_*82+260delinsCTT	ENSP00000497673.2:n.*82+258_*82+260delinsCTT
ENST00000647978.2:c.*3587+258_*3587+260delinsCTT	ENSP00000497658.1:n.*3587+258_*3587+260delinsCTT
ENST00000649781.2:c.3690+258_3690+260delinsCTT	ENSP00000497203.1:n.3690+258_3690+260delinsCTT
ENST00000685018.2:c.3874-17_3874-15delinsCTT	ENSP00000510194.2:n.3874-17_3874-15delinsCTT
ENST00000687278.2:c.*526+258_*526+260delinsCTT	ENSP00000509593.2:n.*526+258_*526+260delinsCTT
ENST00000699585.1:c.*82+258_*82+260delinsCTT	ENSP00000514456.1:n.*82+258_*82+260delinsCTT
ENST00000699598.1:c.3873+258_3873+260delinsCTT	ENSP00000514467.1:n.3873+258_3873+260delinsCTT
ENST00000699599.1:c.3874-17_3874-15delinsCTT	ENSP00000514468.1:n.3874-17_3874-15delinsCTT
ENST00000699600.1:c.*534+258_*534+260delinsCTT	ENSP00000514469.1:n.*534+258_*534+260delinsCTT
ENST00000699601.1:c.*2248+258_*2248+260delinsCTT	ENSP00000514470.1:n.*2248+258_*2248+260delinsCTT
ENST00000699602.1:c.3867+258_3867+260delinsCTT	ENSP00000514471.1:n.3867+258_3867+260delinsCTT
ENST00000699604.1:c.*3697+258_*3697+260delinsCTT	ENSP00000514472.1:n.*3697+258_*3697+260delinsCTT
ENST00000699605.1:c.3447+258_3447+260delinsCTT	ENSP00000514473.1:n.3447+258_3447+260delinsCTT
ENST00000685018.1:c.622-17_622-15delinsCTT	ENSP00000510194.1:n.622-17_622-15delinsCTT
ENST00000687278.1:c.1660+258_1660+260delinsCTT	ENSP00000509593.1:n.1660+258_1660+260delinsCTT
ENST00000689011.1:c.455+258_455+260delinsCTT
ENST00000003084.11:c.3873+258_3873+260delinsCTT MANE Select	ENSP00000003084.6:n.3873+258_3873+260delinsCTT
ENST00000647720.1:c.1323+258_1323+260delinsCTT
ENST00000649781.1:c.3690+258_3690+260delinsCTT	ENSP00000497203.1:n.3690+258_3690+260delinsCTT
ENST00000003084.10:c.3873+258_3873+260delinsCTT	ENSP00000003084.6:n.3873+258_3873+260delinsCTT
ENST00000426809.5:c.3783+258_3783+260delinsCTT	ENSP00000389119.1:n.3783+258_3783+260delinsCTT
NM_000492.3:c.3873+258_3873+260delinsCTT , LRG_663t1:c.3873+258_3873+260delinsCTT	NP_000483.3:n.3873+258_3873+260delinsCTT
XM_011515751.1:c.3963+258_3963+260delinsCTT	XP_011514053.1:n.3963+258_3963+260delinsCTT
XM_011515752.1:c.3963+258_3963+260delinsCTT	XP_011514054.1:n.3963+258_3963+260delinsCTT
XM_011515753.1:c.3630+258_3630+260delinsCTT	XP_011514055.1:n.3630+258_3630+260delinsCTT
XM_011515754.1:c.3630+258_3630+260delinsCTT	XP_011514056.1:n.3630+258_3630+260delinsCTT
NM_000492.4:c.3873+258_3873+260delinsCTT MANE Select	NP_000483.3:n.3873+258_3873+260delinsCTT