Canonical Allele Identifier: CA2580614249

Gene: CFTR

Linked Data

• ClinVar Variation Id: 2573428
• ClinVar RCV Id: RCV003317764

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592540_117592544delinsCC , CM000669.2:g.117592540_117592544delinsCC	GRCh38
NC_000007.13:g.117232594_117232598delinsCC , CM000669.1:g.117232594_117232598delinsCC	GRCh37
NC_000007.12:g.117019830_117019834delinsCC	NCBI36
NG_016465.4:g.131757_131761delinsCC , LRG_663:g.131757_131761delinsCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2373_2377delinsCC	ENSP00000497673.2:p.Arg792_Lys793delinsGln
ENST00000647978.2:c.*2087_*2091delinsCC	ENSP00000497658.1:n.*2087_*2091delinsCC
ENST00000649781.2:c.2190_2194delinsCC	ENSP00000497203.1:p.Arg731_Lys732delinsGln
ENST00000685018.2:c.2373_2377delinsCC	ENSP00000510194.2:p.Arg792_Lys793delinsGln
ENST00000687278.2:c.2373_2377delinsCC	ENSP00000509593.2:p.Arg792_Lys793delinsGln
ENST00000699585.1:c.2373_2377delinsCC	ENSP00000514456.1:p.Arg792_Lys793delinsGln
ENST00000699598.1:c.2373_2377delinsCC	ENSP00000514467.1:p.Arg792_Lys793delinsGln
ENST00000699599.1:c.2373_2377delinsCC	ENSP00000514468.1:p.Arg792_Lys793delinsGln
ENST00000699600.1:c.2373_2377delinsCC	ENSP00000514469.1:p.Arg792_Lys793delinsGln
ENST00000699601.1:c.*673_*677delinsCC	ENSP00000514470.1:n.*673_*677delinsCC
ENST00000699602.1:c.2373_2377delinsCC	ENSP00000514471.1:p.Arg792_Lys793delinsGln
ENST00000699604.1:c.*2197_*2201delinsCC	ENSP00000514472.1:n.*2197_*2201delinsCC
ENST00000699605.1:c.1947_1951delinsCC	ENSP00000514473.1:p.Arg650_Lys651delinsGln
ENST00000003084.11:c.2373_2377delinsCC MANE Select	ENSP00000003084.6:p.Arg792_Lys793delinsGln
ENST00000647720.1:c.23_27delinsCC
ENST00000647978.1:c.*2087_*2091delinsCC	ENSP00000497658.1:n.*2087_*2091delinsCC
ENST00000648260.1:c.1402-10286_1402-10282delinsCC	ENSP00000497957.1:n.1402-10286_1402-10282delinsCC
ENST00000649406.1:c.2190_2194delinsCC	ENSP00000497965.1:p.Arg731_Lys732delinsGln
ENST00000649781.1:c.2190_2194delinsCC	ENSP00000497203.1:p.Arg731_Lys732delinsGln
ENST00000003084.10:c.2373_2377delinsCC	ENSP00000003084.6:p.Arg792_Lys793delinsGln
ENST00000426809.5:c.2283_2287delinsCC	ENSP00000389119.1:p.Arg762_Lys763delinsGln
NM_000492.3:c.2373_2377delinsCC , LRG_663t1:c.2373_2377delinsCC	NP_000483.3:p.Arg792_Lys793delinsGln
XM_011515751.1:c.2463_2467delinsCC	XP_011514053.1:p.Arg822_Lys823delinsGln
XM_011515752.1:c.2463_2467delinsCC	XP_011514054.1:p.Arg822_Lys823delinsGln
XM_011515753.1:c.2130_2134delinsCC	XP_011514055.1:p.Arg711_Lys712delinsGln
XM_011515754.1:c.2130_2134delinsCC	XP_011514056.1:p.Arg711_Lys712delinsGln
NM_000492.4:c.2373_2377delinsCC MANE Select	NP_000483.3:p.Arg792_Lys793delinsGln