Canonical Allele Identifier: CA577680773

Gene: CFTR

Linked Data

• gnomAD v2: 7-117232595-CGAA-C
• gnomAD v4: 7-117592541-CGAA-C
• MyVariant Identifiers: chr7:g.117232596_117232598del (hg19) ; chr7:g.117592542_117592544del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592542_117592544del , CM000669.2:g.117592542_117592544del	GRCh38
NC_000007.13:g.117232596_117232598del , CM000669.1:g.117232596_117232598del	GRCh37
NC_000007.12:g.117019832_117019834del	NCBI36
NG_016465.4:g.131759_131761del , LRG_663:g.131759_131761del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2375_2377del	ENSP00000497673.2:p.Arg792_Lys793delinsGl...
ENST00000647978.2:c.*2089_*2091del	ENSP00000497658.1:n.*2089_*2091del
ENST00000649781.2:c.2192_2194del	ENSP00000497203.1:p.Arg731_Lys732delinsGl...
ENST00000685018.2:c.2375_2377del	ENSP00000510194.2:p.Arg792_Lys793delinsGl...
ENST00000687278.2:c.2375_2377del	ENSP00000509593.2:p.Arg792_Lys793delinsGl...
ENST00000699585.1:c.2375_2377del	ENSP00000514456.1:p.Arg792_Lys793delinsGl...
ENST00000699598.1:c.2375_2377del	ENSP00000514467.1:p.Arg792_Lys793delinsGl...
ENST00000699599.1:c.2375_2377del	ENSP00000514468.1:p.Arg792_Lys793delinsGl...
ENST00000699600.1:c.2375_2377del	ENSP00000514469.1:p.Arg792_Lys793delinsGl...
ENST00000699601.1:c.*675_*677del	ENSP00000514470.1:n.*675_*677del
ENST00000699602.1:c.2375_2377del	ENSP00000514471.1:p.Arg792_Lys793delinsGl...
ENST00000699604.1:c.*2199_*2201del	ENSP00000514472.1:n.*2199_*2201del
ENST00000699605.1:c.1949_1951del	ENSP00000514473.1:p.Arg650_Lys651delinsGl...
ENST00000003084.11:c.2375_2377del MANE Select	ENSP00000003084.6:p.Arg792_Lys793delinsGl...
ENST00000647720.1:c.25_27del
ENST00000647978.1:c.*2089_*2091del	ENSP00000497658.1:n.*2089_*2091del
ENST00000648260.1:c.1402-10284_1402-10282del	ENSP00000497957.1:n.1402-10284_1402-10282...
ENST00000649406.1:c.2192_2194del	ENSP00000497965.1:p.Arg731_Lys732delinsGl...
ENST00000649781.1:c.2192_2194del	ENSP00000497203.1:p.Arg731_Lys732delinsGl...
ENST00000003084.10:c.2375_2377del	ENSP00000003084.6:p.Arg792_Lys793delinsGl...
ENST00000426809.5:c.2285_2287del	ENSP00000389119.1:p.Arg762_Lys763delinsGl...
NM_000492.3:c.2375_2377del , LRG_663t1:c.2375_2377del	NP_000483.3:p.Arg792_Lys793delinsGln
XM_011515751.1:c.2465_2467del	XP_011514053.1:p.Arg822_Lys823delinsGln
XM_011515752.1:c.2465_2467del	XP_011514054.1:p.Arg822_Lys823delinsGln
XM_011515753.1:c.2132_2134del	XP_011514055.1:p.Arg711_Lys712delinsGln
XM_011515754.1:c.2132_2134del	XP_011514056.1:p.Arg711_Lys712delinsGln
NM_000492.4:c.2375_2377del MANE Select	NP_000483.3:p.Arg792_Lys793delinsGln