Canonical Allele Identifier: CA1737422919

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665520_117665521delinsTG , CM000669.2:g.117665520_117665521delinsTG	GRCh38
NC_000007.13:g.117305574_117305575delinsTG , CM000669.1:g.117305574_117305575delinsTG	GRCh37
NC_000007.12:g.117092810_117092811delinsTG	NCBI36
NG_016465.4:g.204737_204738delinsTG , LRG_663:g.204737_204738delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*407_*408delinsTG	ENSP00000497673.2:n.*407_*408delinsTG
ENST00000647978.2:c.*3912_*3913delinsTG	ENSP00000497658.1:n.*3912_*3913delinsTG
ENST00000649781.2:c.4015_4016delinsTG	ENSP00000497203.1:p.Cys1339=
ENST00000685018.2:c.*411_*412delinsTG	ENSP00000510194.2:n.*411_*412delinsTG
ENST00000687278.2:c.*851_*852delinsTG	ENSP00000509593.2:n.*851_*852delinsTG
ENST00000699585.1:c.*407_*408delinsTG	ENSP00000514456.1:n.*407_*408delinsTG
ENST00000699598.1:c.4198_4199delinsTG	ENSP00000514467.1:p.Cys1400=
ENST00000699599.1:c.*411_*412delinsTG	ENSP00000514468.1:n.*411_*412delinsTG
ENST00000699600.1:c.*859_*860delinsTG	ENSP00000514469.1:n.*859_*860delinsTG
ENST00000699601.1:c.*2573_*2574delinsTG	ENSP00000514470.1:n.*2573_*2574delinsTG
ENST00000699602.1:c.4192_4193delinsTG	ENSP00000514471.1:p.Cys1398=
ENST00000699604.1:c.*4022_*4023delinsTG	ENSP00000514472.1:n.*4022_*4023delinsTG
ENST00000699605.1:c.3772_3773delinsTG	ENSP00000514473.1:p.Cys1258=
ENST00000699606.1:n.2366_2367delinsTG
ENST00000685018.1:c.1062_1063delinsTG	ENSP00000510194.1:n.1062_1063delinsTG
ENST00000687278.1:c.1985_1986delinsTG	ENSP00000509593.1:n.1985_1986delinsTG
ENST00000689011.1:c.780_781delinsTG
ENST00000003084.11:c.4198_4199delinsTG MANE Select	ENSP00000003084.6:p.Cys1400=
ENST00000647720.1:c.1648_1649delinsTG
ENST00000649781.1:c.4015_4016delinsTG	ENSP00000497203.1:p.Cys1339=
ENST00000003084.10:c.4198_4199delinsTG	ENSP00000003084.6:p.Cys1400=
ENST00000426809.5:c.4108_4109delinsTG	ENSP00000389119.1:p.Cys1370=
ENST00000600166.1:c.324_325delinsTG
NM_000492.3:c.4198_4199delinsTG , LRG_663t1:c.4198_4199delinsTG	NP_000483.3:p.Cys1400=
XM_011515751.1:c.4288_4289delinsTG	XP_011514053.1:p.Cys1430=
XM_011515752.1:c.4288_4289delinsTG	XP_011514054.1:p.Cys1430=
XM_011515753.1:c.3955_3956delinsTG	XP_011514055.1:p.Cys1319=
XM_011515754.1:c.3955_3956delinsTG	XP_011514056.1:p.Cys1319=
NM_000492.4:c.4198_4199delinsTG MANE Select	NP_000483.3:p.Cys1400=