Canonical Allele Identifier: CA2684587832

Gene: CFTR

Linked Data

• gnomAD v4: 7-117603722-C-CCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603722_117603723insCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA , CM000669.2:g.117603722_117603723insCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA	GRCh38
NC_000007.13:g.117243776_117243777insCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA , CM000669.1:g.117243776_117243777insCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA	GRCh37
NC_000007.12:g.117031012_117031013insCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA	NCBI36
NG_016465.4:g.142939_142940insCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA , LRG_663:g.142939_142940insCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2848_2849insCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA	ENSP00000497673.2:p.His950ProfsTer39
ENST00000647978.2:c.*2562_*2563insCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA	ENSP00000497658.1:n.*2562_*2563insCAGAGAT...
ENST00000649781.2:c.2665_2666insCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA	ENSP00000497203.1:p.His889ProfsTer39
ENST00000685018.2:c.2848_2849insCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA	ENSP00000510194.2:p.His950ProfsTer39
ENST00000687278.2:c.2848_2849insCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA	ENSP00000509593.2:p.His950ProfsTer39
ENST00000699585.1:c.2848_2849insCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA	ENSP00000514456.1:p.His950ProfsTer39
ENST00000699598.1:c.2848_2849insCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA	ENSP00000514467.1:p.His950ProfsTer39
ENST00000699599.1:c.2848_2849insCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA	ENSP00000514468.1:p.His950ProfsTer39
ENST00000699600.1:c.2848_2849insCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA	ENSP00000514469.1:p.His950ProfsTer39
ENST00000699601.1:c.*1148_*1149insCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA	ENSP00000514470.1:n.*1148_*1149insCAGAGAT...
ENST00000699602.1:c.2848_2849insCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA	ENSP00000514471.1:p.His950ProfsTer39
ENST00000699604.1:c.*2672_*2673insCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA	ENSP00000514472.1:n.*2672_*2673insCAGAGAT...
ENST00000699605.1:c.2422_2423insCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA	ENSP00000514473.1:p.His808ProfsTer39
ENST00000687278.1:c.439_440insCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA	ENSP00000509593.1:p.His147ProfsTer39
ENST00000003084.11:c.2848_2849insCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA MANE Select	ENSP00000003084.6:p.His950ProfsTer39
ENST00000647720.1:c.498_499insCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA
ENST00000648260.1:c.1630_1631insCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA	ENSP00000497957.1:p.His544ProfsTer39
ENST00000649406.1:c.2665_2666insCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA	ENSP00000497965.1:p.His889ProfsTer39
ENST00000649781.1:c.2665_2666insCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA	ENSP00000497203.1:p.His889ProfsTer39
ENST00000003084.10:c.2848_2849insCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA	ENSP00000003084.6:p.His950ProfsTer39
ENST00000426809.5:c.2758_2759insCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA	ENSP00000389119.1:p.His920ProfsTer39
NM_000492.3:c.2848_2849insCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA , LRG_663t1:c.2848_2849insCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA	NP_000483.3:p.His950ProfsTer39
XM_011515751.1:c.2938_2939insCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA	XP_011514053.1:p.His980ProfsTer39
XM_011515752.1:c.2938_2939insCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA	XP_011514054.1:p.His980ProfsTer39
XM_011515753.1:c.2605_2606insCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA	XP_011514055.1:p.His869ProfsTer39
XM_011515754.1:c.2605_2606insCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA	XP_011514056.1:p.His869ProfsTer39
NM_000492.4:c.2848_2849insCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGTTGGTTTCAA MANE Select	NP_000483.3:p.His950ProfsTer39