Canonical Allele Identifier: CA2684587877

Gene: CFTR

Linked Data

• gnomAD v4: 7-117603896-T-TCTTGAAGAGGAGTGCTGTAAAGCAAATAGGAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603896_117603897insCTTGAAGAGGAGTGCTGTAAAGCAAATAGGAAA , CM000669.2:g.117603896_117603897insCTTGAAGAGGAGTGCTGTAAAGCAAATAGGAAA	GRCh38
NC_000007.13:g.117243950_117243951insCTTGAAGAGGAGTGCTGTAAAGCAAATAGGAAA , CM000669.1:g.117243950_117243951insCTTGAAGAGGAGTGCTGTAAAGCAAATAGGAAA	GRCh37
NC_000007.12:g.117031186_117031187insCTTGAAGAGGAGTGCTGTAAAGCAAATAGGAAA	NCBI36
NG_016465.4:g.143113_143114insCTTGAAGAGGAGTGCTGTAAAGCAAATAGGAAA , LRG_663:g.143113_143114insCTTGAAGAGGAGTGCTGTAAAGCAAATAGGAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2908+114_2908+115insCTTGAAGAGGAGTGCTGTAAAGCAAATAGGAAA	ENSP00000497673.2:n.2908+114_2908+115insCTTGAAGAGGAGTGCTGTAAA...
ENST00000647978.2:c.*2622+114_*2622+115insCTTGAAGAGGAGTGCTGTAAAGCAAATAGGAAA	ENSP00000497658.1:n.*2622+114_*2622+115insCTTGAAGAGGAGTGCTGTA...
ENST00000649781.2:c.2725+114_2725+115insCTTGAAGAGGAGTGCTGTAAAGCAAATAGGAAA	ENSP00000497203.1:n.2725+114_2725+115insCTTGAAGAGGAGTGCTGTAAA...
ENST00000685018.2:c.2908+114_2908+115insCTTGAAGAGGAGTGCTGTAAAGCAAATAGGAAA	ENSP00000510194.2:n.2908+114_2908+115insCTTGAAGAGGAGTGCTGTAAA...
ENST00000687278.2:c.2908+114_2908+115insCTTGAAGAGGAGTGCTGTAAAGCAAATAGGAAA	ENSP00000509593.2:n.2908+114_2908+115insCTTGAAGAGGAGTGCTGTAAA...
ENST00000699585.1:c.2908+114_2908+115insCTTGAAGAGGAGTGCTGTAAAGCAAATAGGAAA	ENSP00000514456.1:n.2908+114_2908+115insCTTGAAGAGGAGTGCTGTAAA...
ENST00000699598.1:c.2908+114_2908+115insCTTGAAGAGGAGTGCTGTAAAGCAAATAGGAAA	ENSP00000514467.1:n.2908+114_2908+115insCTTGAAGAGGAGTGCTGTAAA...
ENST00000699599.1:c.2908+114_2908+115insCTTGAAGAGGAGTGCTGTAAAGCAAATAGGAAA	ENSP00000514468.1:n.2908+114_2908+115insCTTGAAGAGGAGTGCTGTAAA...
ENST00000699600.1:c.2908+114_2908+115insCTTGAAGAGGAGTGCTGTAAAGCAAATAGGAAA	ENSP00000514469.1:n.2908+114_2908+115insCTTGAAGAGGAGTGCTGTAAA...
ENST00000699601.1:c.*1208+114_*1208+115insCTTGAAGAGGAGTGCTGTAAAGCAAATAGGAAA	ENSP00000514470.1:n.*1208+114_*1208+115insCTTGAAGAGGAGTGCTGTA...
ENST00000699602.1:c.2908+114_2908+115insCTTGAAGAGGAGTGCTGTAAAGCAAATAGGAAA	ENSP00000514471.1:n.2908+114_2908+115insCTTGAAGAGGAGTGCTGTAAA...
ENST00000699604.1:c.*2732+114_*2732+115insCTTGAAGAGGAGTGCTGTAAAGCAAATAGGAAA	ENSP00000514472.1:n.*2732+114_*2732+115insCTTGAAGAGGAGTGCTGTA...
ENST00000699605.1:c.2482+114_2482+115insCTTGAAGAGGAGTGCTGTAAAGCAAATAGGAAA	ENSP00000514473.1:n.2482+114_2482+115insCTTGAAGAGGAGTGCTGTAAA...
ENST00000687278.1:c.499+114_499+115insCTTGAAGAGGAGTGCTGTAAAGCAAATAGGAAA	ENSP00000509593.1:n.499+114_499+115insCTTGAAGAGGAGTGCTGTAAAGC...
ENST00000003084.11:c.2908+114_2908+115insCTTGAAGAGGAGTGCTGTAAAGCAAATAGGAAA MANE Select	ENSP00000003084.6:n.2908+114_2908+115insCTTGAAGAGGAGTGCTGTAAA...
ENST00000647720.1:c.558+114_558+115insCTTGAAGAGGAGTGCTGTAAAGCAAATAGGAAA
ENST00000648260.1:c.1690+114_1690+115insCTTGAAGAGGAGTGCTGTAAAGCAAATAGGAAA	ENSP00000497957.1:n.1690+114_1690+115insCTTGAAGAGGAGTGCTGTAAA...
ENST00000649406.1:c.2725+114_2725+115insCTTGAAGAGGAGTGCTGTAAAGCAAATAGGAAA	ENSP00000497965.1:n.2725+114_2725+115insCTTGAAGAGGAGTGCTGTAAA...
ENST00000649781.1:c.2725+114_2725+115insCTTGAAGAGGAGTGCTGTAAAGCAAATAGGAAA	ENSP00000497203.1:n.2725+114_2725+115insCTTGAAGAGGAGTGCTGTAAA...
ENST00000003084.10:c.2908+114_2908+115insCTTGAAGAGGAGTGCTGTAAAGCAAATAGGAAA	ENSP00000003084.6:n.2908+114_2908+115insCTTGAAGAGGAGTGCTGTAAA...
ENST00000426809.5:c.2818+114_2818+115insCTTGAAGAGGAGTGCTGTAAAGCAAATAGGAAA	ENSP00000389119.1:n.2818+114_2818+115insCTTGAAGAGGAGTGCTGTAAA...
NM_000492.3:c.2908+114_2908+115insCTTGAAGAGGAGTGCTGTAAAGCAAATAGGAAA , LRG_663t1:c.2908+114_2908+115insCTTGAAGAGGAGTGCTGTAAAGCAAATAGGAAA	NP_000483.3:n.2908+114_2908+115insCTTGAAGAGGAGTGCTGTAAAGCAAAT...
XM_011515751.1:c.2998+114_2998+115insCTTGAAGAGGAGTGCTGTAAAGCAAATAGGAAA	XP_011514053.1:n.2998+114_2998+115insCTTGAAGAGGAGTGCTGTAAAGCA...
XM_011515752.1:c.2998+114_2998+115insCTTGAAGAGGAGTGCTGTAAAGCAAATAGGAAA	XP_011514054.1:n.2998+114_2998+115insCTTGAAGAGGAGTGCTGTAAAGCA...
XM_011515753.1:c.2665+114_2665+115insCTTGAAGAGGAGTGCTGTAAAGCAAATAGGAAA	XP_011514055.1:n.2665+114_2665+115insCTTGAAGAGGAGTGCTGTAAAGCA...
XM_011515754.1:c.2665+114_2665+115insCTTGAAGAGGAGTGCTGTAAAGCAAATAGGAAA	XP_011514056.1:n.2665+114_2665+115insCTTGAAGAGGAGTGCTGTAAAGCA...
NM_000492.4:c.2908+114_2908+115insCTTGAAGAGGAGTGCTGTAAAGCAAATAGGAAA MANE Select	NP_000483.3:n.2908+114_2908+115insCTTGAAGAGGAGTGCTGTAAAGCAAAT...