Canonical Allele Identifier: CA2684619362

Gene: CFTR

Linked Data

• gnomAD v4: 7-117592466-C-CGACT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592466_117592467insGACT , CM000669.2:g.117592466_117592467insGACT	GRCh38
NC_000007.13:g.117232520_117232521insGACT , CM000669.1:g.117232520_117232521insGACT	GRCh37
NC_000007.12:g.117019756_117019757insGACT	NCBI36
NG_016465.4:g.131683_131684insGACT , LRG_663:g.131683_131684insGACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2299_2300insGACT	ENSP00000497673.2:p.Gln767ArgfsTer13
ENST00000647978.2:c.*2013_*2014insGACT	ENSP00000497658.1:n.*2013_*2014insGACT
ENST00000649781.2:c.2116_2117insGACT	ENSP00000497203.1:p.Gln706ArgfsTer13
ENST00000685018.2:c.2299_2300insGACT	ENSP00000510194.2:p.Gln767ArgfsTer13
ENST00000687278.2:c.2299_2300insGACT	ENSP00000509593.2:p.Gln767ArgfsTer13
ENST00000699585.1:c.2299_2300insGACT	ENSP00000514456.1:p.Gln767ArgfsTer13
ENST00000699598.1:c.2299_2300insGACT	ENSP00000514467.1:p.Gln767ArgfsTer13
ENST00000699599.1:c.2299_2300insGACT	ENSP00000514468.1:p.Gln767ArgfsTer13
ENST00000699600.1:c.2299_2300insGACT	ENSP00000514469.1:p.Gln767ArgfsTer13
ENST00000699601.1:c.*599_*600insGACT	ENSP00000514470.1:n.*599_*600insGACT
ENST00000699602.1:c.2299_2300insGACT	ENSP00000514471.1:p.Gln767ArgfsTer13
ENST00000699604.1:c.*2123_*2124insGACT	ENSP00000514472.1:n.*2123_*2124insGACT
ENST00000699605.1:c.1873_1874insGACT	ENSP00000514473.1:p.Gln625ArgfsTer13
ENST00000003084.11:c.2299_2300insGACT MANE Select	ENSP00000003084.6:p.Gln767ArgfsTer13
ENST00000647978.1:c.*2013_*2014insGACT	ENSP00000497658.1:n.*2013_*2014insGACT
ENST00000648260.1:c.1402-10360_1402-10359insGACT	ENSP00000497957.1:n.1402-10360_1402-10359insGACT
ENST00000649406.1:c.2116_2117insGACT	ENSP00000497965.1:p.Gln706ArgfsTer13
ENST00000649781.1:c.2116_2117insGACT	ENSP00000497203.1:p.Gln706ArgfsTer13
ENST00000003084.10:c.2299_2300insGACT	ENSP00000003084.6:p.Gln767ArgfsTer13
ENST00000426809.5:c.2209_2210insGACT	ENSP00000389119.1:p.Gln737ArgfsTer13
NM_000492.3:c.2299_2300insGACT , LRG_663t1:c.2299_2300insGACT	NP_000483.3:p.Gln767ArgfsTer13
XM_011515751.1:c.2389_2390insGACT	XP_011514053.1:p.Gln797ArgfsTer13
XM_011515752.1:c.2389_2390insGACT	XP_011514054.1:p.Gln797ArgfsTer13
XM_011515753.1:c.2056_2057insGACT	XP_011514055.1:p.Gln686ArgfsTer13
XM_011515754.1:c.2056_2057insGACT	XP_011514056.1:p.Gln686ArgfsTer13
NM_000492.4:c.2299_2300insGACT MANE Select	NP_000483.3:p.Gln767ArgfsTer13