Canonical Allele Identifier: CA2573141584

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1452452
• ClinVar RCV Id: RCV001994554
• dbSNP Id: rs2116069700

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117606724_117606725dup , CM000669.2:g.117606724_117606725dup	GRCh38
NC_000007.13:g.117246778_117246779dup , CM000669.1:g.117246778_117246779dup	GRCh37
NC_000007.12:g.117034014_117034015dup	NCBI36
NG_016465.4:g.145941_145942dup , LRG_663:g.145941_145942dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2959_2960dup	ENSP00000497673.2:p.Pro988CysfsTer13
ENST00000647978.2:c.*2673_*2674dup	ENSP00000497658.1:n.*2673_*2674dup
ENST00000649781.2:c.2776_2777dup	ENSP00000497203.1:p.Pro927CysfsTer13
ENST00000685018.2:c.2959_2960dup	ENSP00000510194.2:p.Pro988CysfsTer13
ENST00000687278.2:c.2959_2960dup	ENSP00000509593.2:p.Pro988CysfsTer13
ENST00000699585.1:c.2959_2960dup	ENSP00000514456.1:p.Pro988CysfsTer13
ENST00000699598.1:c.2959_2960dup	ENSP00000514467.1:p.Pro988CysfsTer13
ENST00000699599.1:c.2959_2960dup	ENSP00000514468.1:p.Pro988CysfsTer13
ENST00000699600.1:c.2959_2960dup	ENSP00000514469.1:p.Pro988CysfsTer13
ENST00000699601.1:c.*1259_*1260dup	ENSP00000514470.1:n.*1259_*1260dup
ENST00000699602.1:c.2959_2960dup	ENSP00000514471.1:p.Pro988CysfsTer13
ENST00000699604.1:c.*2783_*2784dup	ENSP00000514472.1:n.*2783_*2784dup
ENST00000699605.1:c.2533_2534dup	ENSP00000514473.1:p.Pro846CysfsTer13
ENST00000687278.1:c.550_551dup	ENSP00000509593.1:p.Pro185CysfsTer13
ENST00000003084.11:c.2959_2960dup MANE Select	ENSP00000003084.6:p.Pro988CysfsTer13
ENST00000647720.1:c.609_610dup
ENST00000648260.1:c.1741_1742dup	ENSP00000497957.1:p.Pro582CysfsTer13
ENST00000649406.1:c.2776_2777dup	ENSP00000497965.1:p.Pro927CysfsTer13
ENST00000649781.1:c.2776_2777dup	ENSP00000497203.1:p.Pro927CysfsTer13
ENST00000003084.10:c.2959_2960dup	ENSP00000003084.6:p.Pro988CysfsTer13
ENST00000426809.5:c.2869_2870dup	ENSP00000389119.1:p.Pro958CysfsTer13
NM_000492.3:c.2959_2960dup , LRG_663t1:c.2959_2960dup	NP_000483.3:p.Pro988CysfsTer13
XM_011515751.1:c.3049_3050dup	XP_011514053.1:p.Pro1018CysfsTer13
XM_011515752.1:c.3049_3050dup	XP_011514054.1:p.Pro1018CysfsTer13
XM_011515753.1:c.2716_2717dup	XP_011514055.1:p.Pro907CysfsTer13
XM_011515754.1:c.2716_2717dup	XP_011514056.1:p.Pro907CysfsTer13
NM_000492.4:c.2959_2960dup MANE Select	NP_000483.3:p.Pro988CysfsTer13