Canonical Allele Identifier: CA1737392157

Gene: CFTR

Linked Data

• dbSNP Id: rs1792457359

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117614672_117614673insATCACATTAAATT , CM000669.2:g.117614672_117614673insATCACATTAAATT	GRCh38
NC_000007.13:g.117254726_117254727insATCACATTAAATT , CM000669.1:g.117254726_117254727insATCACATTAAATT	GRCh37
NC_000007.12:g.117041962_117041963insATCACATTAAATT	NCBI36
NG_016465.4:g.153889_153890insATCACATTAAATT , LRG_663:g.153889_153890insATCACATTAAATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3427_3428insATCACATTAAATT	ENSP00000497673.2:p.Leu1143TyrfsTer17
ENST00000647978.2:c.*3141_*3142insATCACATTAAATT	ENSP00000497658.1:n.*3141_*3142insATCACATTAAATT
ENST00000649781.2:c.3244_3245insATCACATTAAATT	ENSP00000497203.1:p.Leu1082TyrfsTer17
ENST00000685018.2:c.3427_3428insATCACATTAAATT	ENSP00000510194.2:p.Leu1143TyrfsTer17
ENST00000687278.2:c.3427_3428insATCACATTAAATT	ENSP00000509593.2:p.Leu1143TyrfsTer17
ENST00000699585.1:c.3427_3428insATCACATTAAATT	ENSP00000514456.1:p.Leu1143TyrfsTer17
ENST00000699598.1:c.3427_3428insATCACATTAAATT	ENSP00000514467.1:p.Leu1143TyrfsTer17
ENST00000699599.1:c.3427_3428insATCACATTAAATT	ENSP00000514468.1:p.Leu1143TyrfsTer17
ENST00000699600.1:c.3427_3428insATCACATTAAATT	ENSP00000514469.1:p.Leu1143TyrfsTer17
ENST00000699601.1:c.*1802_*1803insATCACATTAAATT	ENSP00000514470.1:n.*1802_*1803insATCACATTAAATT
ENST00000699602.1:c.3421_3422insATCACATTAAATT	ENSP00000514471.1:p.Leu1141TyrfsTer17
ENST00000699604.1:c.*3251_*3252insATCACATTAAATT	ENSP00000514472.1:n.*3251_*3252insATCACATTAAATT
ENST00000699605.1:c.3001_3002insATCACATTAAATT	ENSP00000514473.1:p.Leu1001TyrfsTer17
ENST00000685018.1:c.175_176insATCACATTAAATT	ENSP00000510194.1:p.Leu59TyrfsTer17
ENST00000687278.1:c.1018_1019insATCACATTAAATT	ENSP00000509593.1:p.Leu340TyrfsTer17
ENST00000689011.1:c.9_10insATCACATTAAATT
ENST00000003084.11:c.3427_3428insATCACATTAAATT MANE Select	ENSP00000003084.6:p.Leu1143TyrfsTer17
ENST00000647720.1:c.1077_1078insATCACATTAAATT
ENST00000648260.1:c.2209_2210insATCACATTAAATT	ENSP00000497957.1:p.Leu737TyrfsTer17
ENST00000649406.1:c.3244_3245insATCACATTAAATT	ENSP00000497965.1:p.Leu1082TyrfsTer17
ENST00000649781.1:c.3244_3245insATCACATTAAATT	ENSP00000497203.1:p.Leu1082TyrfsTer17
ENST00000003084.10:c.3427_3428insATCACATTAAATT	ENSP00000003084.6:p.Leu1143TyrfsTer17
ENST00000426809.5:c.3337_3338insATCACATTAAATT	ENSP00000389119.1:p.Leu1113TyrfsTer17
ENST00000468795.1:c.252_253insATCACATTAAATT
NM_000492.3:c.3427_3428insATCACATTAAATT , LRG_663t1:c.3427_3428insATCACATTAAATT	NP_000483.3:p.Leu1143TyrfsTer17
XM_011515751.1:c.3517_3518insATCACATTAAATT	XP_011514053.1:p.Leu1173TyrfsTer17
XM_011515752.1:c.3517_3518insATCACATTAAATT	XP_011514054.1:p.Leu1173TyrfsTer17
XM_011515753.1:c.3184_3185insATCACATTAAATT	XP_011514055.1:p.Leu1062TyrfsTer17
XM_011515754.1:c.3184_3185insATCACATTAAATT	XP_011514056.1:p.Leu1062TyrfsTer17
NM_000492.4:c.3427_3428insATCACATTAAATT MANE Select	NP_000483.3:p.Leu1143TyrfsTer17