Canonical Allele Identifier: CA2684618001

Gene: CFTR

Linked Data

• gnomAD v4: 7-117509148-G-GATCTCATTTGTACATTCATTATGTATCACATAACTATATTCATTTTTGTGATTATGAAAAGACTACGAAATCTGGTGAATAGGTGTAAAAATATAAAGGATGAATCCAAATCCAA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117509257_117509258insATCCAAATCTCATTTGTACATTCATTATGTATCACATAACTATATTCATTTTTGTGATTATGAAAAGACTACGAAATCTGGTGAATAGGTGTAAAAATATAAAGGATGAATCCAA , CM000669.2:g.117509257_117509258insATCCAAATCTCATTTGTACATTCATTATGTATCACATAACTATATTCATTTTTGTGATTATGAAAAGACTACGAAATCTGGTGAATAGGTGTAAAAATATAAAGGATGAATCCAA	GRCh38
NC_000007.13:g.117149311_117149312insATCCAAATCTCATTTGTACATTCATTATGTATCACATAACTATATTCATTTTTGTGATTATGAAAAGACTACGAAATCTGGTGAATAGGTGTAAAAATATAAAGGATGAATCCAA , CM000669.1:g.117149311_117149312insATCCAAATCTCATTTGTACATTCATTATGTATCACATAACTATATTCATTTTTGTGATTATGAAAAGACTACGAAATCTGGTGAATAGGTGTAAAAATATAAAGGATGAATCCAA	GRCh37
NC_000007.12:g.116936547_116936548insATCCAAATCTCATTTGTACATTCATTATGTATCACATAACTATATTCATTTTTGTGATTATGAAAAGACTACGAAATCTGGTGAATAGGTGTAAAAATATAAAGGATGAATCCAA	NCBI36
NG_016465.4:g.48474_48475insATCCAAATCTCATTTGTACATTCATTATGTATCACATAACTATATTCATTTTTGTGATTATGAAAAGACTACGAAATCTGGTGAATAGGTGTAAAAATATAAAGGATGAATCCAA , LRG_663:g.48474_48475insATCCAAATCTCATTTGTACATTCATTATGTATCACATAACTATATTCATTTTTGTGATTATGAAAAGACTACGAAATCTGGTGAATAGGTGTAAAAATATAAAGGATGAATCCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.273+115_273+116insATCCAAATCTCATTTGTACATTCATTATGTATCACATAACTATATTCATTTTTGTGATTATGAAAAGACTACGAAATCTGGTGAATAGGTGTAAAAATATAAAGGATGAATCCAA	ENSP00000497673.2:n.273+115_273+116insATCCAAATCTCATTTGTACATTC...
ENST00000647978.2:c.*170+115_*170+116insATCCAAATCTCATTTGTACATTCATTATGTATCACATAACTATATTCATTTTTGTGATTATGAAAAGACTACGAAATCTGGTGAATAGGTGTAAAAATATAAAGGATGAATCCAA	ENSP00000497658.1:n.*170+115_*170+116insATCCAAATCTCATTTGTACAT...
ENST00000649781.2:c.273+115_273+116insATCCAAATCTCATTTGTACATTCATTATGTATCACATAACTATATTCATTTTTGTGATTATGAAAAGACTACGAAATCTGGTGAATAGGTGTAAAAATATAAAGGATGAATCCAA	ENSP00000497203.1:n.273+115_273+116insATCCAAATCTCATTTGTACATTC...
ENST00000649850.2:c.*285_*286insATCCAAATCTCATTTGTACATTCATTATGTATCACATAACTATATTCATTTTTGTGATTATGAAAAGACTACGAAATCTGGTGAATAGGTGTAAAAATATAAAGGATGAATCCAA	ENSP00000514457.1:n.*285_*286insATCCAAATCTCATTTGTACATTCATTATG...
ENST00000685018.2:c.273+115_273+116insATCCAAATCTCATTTGTACATTCATTATGTATCACATAACTATATTCATTTTTGTGATTATGAAAAGACTACGAAATCTGGTGAATAGGTGTAAAAATATAAAGGATGAATCCAA	ENSP00000510194.2:n.273+115_273+116insATCCAAATCTCATTTGTACATTC...
ENST00000687278.2:c.273+115_273+116insATCCAAATCTCATTTGTACATTCATTATGTATCACATAACTATATTCATTTTTGTGATTATGAAAAGACTACGAAATCTGGTGAATAGGTGTAAAAATATAAAGGATGAATCCAA	ENSP00000509593.2:n.273+115_273+116insATCCAAATCTCATTTGTACATTC...
ENST00000699585.1:c.273+115_273+116insATCCAAATCTCATTTGTACATTCATTATGTATCACATAACTATATTCATTTTTGTGATTATGAAAAGACTACGAAATCTGGTGAATAGGTGTAAAAATATAAAGGATGAATCCAA	ENSP00000514456.1:n.273+115_273+116insATCCAAATCTCATTTGTACATTC...
ENST00000699596.1:c.273+115_273+116insATCCAAATCTCATTTGTACATTCATTATGTATCACATAACTATATTCATTTTTGTGATTATGAAAAGACTACGAAATCTGGTGAATAGGTGTAAAAATATAAAGGATGAATCCAA	ENSP00000514465.1:n.273+115_273+116insATCCAAATCTCATTTGTACATTC...
ENST00000699597.1:c.273+115_273+116insATCCAAATCTCATTTGTACATTCATTATGTATCACATAACTATATTCATTTTTGTGATTATGAAAAGACTACGAAATCTGGTGAATAGGTGTAAAAATATAAAGGATGAATCCAA	ENSP00000514466.1:n.273+115_273+116insATCCAAATCTCATTTGTACATTC...
ENST00000699598.1:c.273+115_273+116insATCCAAATCTCATTTGTACATTCATTATGTATCACATAACTATATTCATTTTTGTGATTATGAAAAGACTACGAAATCTGGTGAATAGGTGTAAAAATATAAAGGATGAATCCAA	ENSP00000514467.1:n.273+115_273+116insATCCAAATCTCATTTGTACATTC...
ENST00000699599.1:c.273+115_273+116insATCCAAATCTCATTTGTACATTCATTATGTATCACATAACTATATTCATTTTTGTGATTATGAAAAGACTACGAAATCTGGTGAATAGGTGTAAAAATATAAAGGATGAATCCAA	ENSP00000514468.1:n.273+115_273+116insATCCAAATCTCATTTGTACATTC...
ENST00000699600.1:c.273+115_273+116insATCCAAATCTCATTTGTACATTCATTATGTATCACATAACTATATTCATTTTTGTGATTATGAAAAGACTACGAAATCTGGTGAATAGGTGTAAAAATATAAAGGATGAATCCAA	ENSP00000514469.1:n.273+115_273+116insATCCAAATCTCATTTGTACATTC...
ENST00000699601.1:c.273+115_273+116insATCCAAATCTCATTTGTACATTCATTATGTATCACATAACTATATTCATTTTTGTGATTATGAAAAGACTACGAAATCTGGTGAATAGGTGTAAAAATATAAAGGATGAATCCAA	ENSP00000514470.1:n.273+115_273+116insATCCAAATCTCATTTGTACATTC...
ENST00000699602.1:c.273+115_273+116insATCCAAATCTCATTTGTACATTCATTATGTATCACATAACTATATTCATTTTTGTGATTATGAAAAGACTACGAAATCTGGTGAATAGGTGTAAAAATATAAAGGATGAATCCAA	ENSP00000514471.1:n.273+115_273+116insATCCAAATCTCATTTGTACATTC...
ENST00000699604.1:c.*97+115_*97+116insATCCAAATCTCATTTGTACATTCATTATGTATCACATAACTATATTCATTTTTGTGATTATGAAAAGACTACGAAATCTGGTGAATAGGTGTAAAAATATAAAGGATGAATCCAA	ENSP00000514472.1:n.*97+115_*97+116insATCCAAATCTCATTTGTACATTC...
ENST00000699605.1:c.30+115_30+116insATCCAAATCTCATTTGTACATTCATTATGTATCACATAACTATATTCATTTTTGTGATTATGAAAAGACTACGAAATCTGGTGAATAGGTGTAAAAATATAAAGGATGAATCCAA	ENSP00000514473.1:n.30+115_30+116insATCCAAATCTCATTTGTACATTCAT...
ENST00000446805.2:c.30+115_30+116insATCCAAATCTCATTTGTACATTCATTATGTATCACATAACTATATTCATTTTTGTGATTATGAAAAGACTACGAAATCTGGTGAATAGGTGTAAAAATATAAAGGATGAATCCAA	ENSP00000417012.1:n.30+115_30+116insATCCAAATCTCATTTGTACATTCAT...
ENST00000003084.11:c.273+115_273+116insATCCAAATCTCATTTGTACATTCATTATGTATCACATAACTATATTCATTTTTGTGATTATGAAAAGACTACGAAATCTGGTGAATAGGTGTAAAAATATAAAGGATGAATCCAA MANE Select	ENSP00000003084.6:n.273+115_273+116insATCCAAATCTCATTTGTACATTC...
ENST00000647639.1:n.357+115_357+116insATCCAAATCTCATTTGTACATTCATTATGTATCACATAACTATATTCATTTTTGTGATTATGAAAAGACTACGAAATCTGGTGAATAGGTGTAAAAATATAAAGGATGAATCCAA
ENST00000647978.1:c.*170+115_*170+116insATCCAAATCTCATTTGTACATTCATTATGTATCACATAACTATATTCATTTTTGTGATTATGAAAAGACTACGAAATCTGGTGAATAGGTGTAAAAATATAAAGGATGAATCCAA	ENSP00000497658.1:n.*170+115_*170+116insATCCAAATCTCATTTGTACAT...
ENST00000648260.1:c.273+115_273+116insATCCAAATCTCATTTGTACATTCATTATGTATCACATAACTATATTCATTTTTGTGATTATGAAAAGACTACGAAATCTGGTGAATAGGTGTAAAAATATAAAGGATGAATCCAA	ENSP00000497957.1:n.273+115_273+116insATCCAAATCTCATTTGTACATTC...
ENST00000649406.1:c.273+115_273+116insATCCAAATCTCATTTGTACATTCATTATGTATCACATAACTATATTCATTTTTGTGATTATGAAAAGACTACGAAATCTGGTGAATAGGTGTAAAAATATAAAGGATGAATCCAA	ENSP00000497965.1:n.273+115_273+116insATCCAAATCTCATTTGTACATTC...
ENST00000649781.1:c.273+115_273+116insATCCAAATCTCATTTGTACATTCATTATGTATCACATAACTATATTCATTTTTGTGATTATGAAAAGACTACGAAATCTGGTGAATAGGTGTAAAAATATAAAGGATGAATCCAA	ENSP00000497203.1:n.273+115_273+116insATCCAAATCTCATTTGTACATTC...
ENST00000649850.1:n.545_546insATCCAAATCTCATTTGTACATTCATTATGTATCACATAACTATATTCATTTTTGTGATTATGAAAAGACTACGAAATCTGGTGAATAGGTGTAAAAATATAAAGGATGAATCCAA
ENST00000673785.1:c.30+115_30+116insATCCAAATCTCATTTGTACATTCATTATGTATCACATAACTATATTCATTTTTGTGATTATGAAAAGACTACGAAATCTGGTGAATAGGTGTAAAAATATAAAGGATGAATCCAA	ENSP00000501235.1:n.30+115_30+116insATCCAAATCTCATTTGTACATTCAT...
ENST00000003084.10:c.273+115_273+116insATCCAAATCTCATTTGTACATTCATTATGTATCACATAACTATATTCATTTTTGTGATTATGAAAAGACTACGAAATCTGGTGAATAGGTGTAAAAATATAAAGGATGAATCCAA	ENSP00000003084.6:n.273+115_273+116insATCCAAATCTCATTTGTACATTC...
ENST00000426809.5:c.273+115_273+116insATCCAAATCTCATTTGTACATTCATTATGTATCACATAACTATATTCATTTTTGTGATTATGAAAAGACTACGAAATCTGGTGAATAGGTGTAAAAATATAAAGGATGAATCCAA	ENSP00000389119.1:n.273+115_273+116insATCCAAATCTCATTTGTACATTC...
ENST00000446805.1:c.30+115_30+116insATCCAAATCTCATTTGTACATTCATTATGTATCACATAACTATATTCATTTTTGTGATTATGAAAAGACTACGAAATCTGGTGAATAGGTGTAAAAATATAAAGGATGAATCCAA	ENSP00000417012.1:n.30+115_30+116insATCCAAATCTCATTTGTACATTCAT...
NM_000492.3:c.273+115_273+116insATCCAAATCTCATTTGTACATTCATTATGTATCACATAACTATATTCATTTTTGTGATTATGAAAAGACTACGAAATCTGGTGAATAGGTGTAAAAATATAAAGGATGAATCCAA , LRG_663t1:c.273+115_273+116insATCCAAATCTCATTTGTACATTCATTATGTATCACATAACTATATTCATTTTTGTGATTATGAAAAGACTACGAAATCTGGTGAATAGGTGTAAAAATATAAAGGATGAATCCAA	NP_000483.3:n.273+115_273+116insATCCAAATCTCATTTGTACATTCATTATG...
XM_011515751.1:c.363+115_363+116insATCCAAATCTCATTTGTACATTCATTATGTATCACATAACTATATTCATTTTTGTGATTATGAAAAGACTACGAAATCTGGTGAATAGGTGTAAAAATATAAAGGATGAATCCAA	XP_011514053.1:n.363+115_363+116insATCCAAATCTCATTTGTACATTCATT...
XM_011515752.1:c.363+115_363+116insATCCAAATCTCATTTGTACATTCATTATGTATCACATAACTATATTCATTTTTGTGATTATGAAAAGACTACGAAATCTGGTGAATAGGTGTAAAAATATAAAGGATGAATCCAA	XP_011514054.1:n.363+115_363+116insATCCAAATCTCATTTGTACATTCATT...
XM_011515753.1:c.30+115_30+116insATCCAAATCTCATTTGTACATTCATTATGTATCACATAACTATATTCATTTTTGTGATTATGAAAAGACTACGAAATCTGGTGAATAGGTGTAAAAATATAAAGGATGAATCCAA	XP_011514055.1:n.30+115_30+116insATCCAAATCTCATTTGTACATTCATTAT...
XM_011515754.1:c.30+115_30+116insATCCAAATCTCATTTGTACATTCATTATGTATCACATAACTATATTCATTTTTGTGATTATGAAAAGACTACGAAATCTGGTGAATAGGTGTAAAAATATAAAGGATGAATCCAA	XP_011514056.1:n.30+115_30+116insATCCAAATCTCATTTGTACATTCATTAT...
NM_000492.4:c.273+115_273+116insATCCAAATCTCATTTGTACATTCATTATGTATCACATAACTATATTCATTTTTGTGATTATGAAAAGACTACGAAATCTGGTGAATAGGTGTAAAAATATAAAGGATGAATCCAA MANE Select	NP_000483.3:n.273+115_273+116insATCCAAATCTCATTTGTACATTCATTATG...