Canonical Allele Identifier: CA2542784879
Gene: CFTR HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117540163_117540164insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGAATAGTAACGTCGAA , CM000669.2:g.117540163_117540164insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGAATAGTAACGTCGAA GRCh38
NC_000007.13:g.117180217_117180218insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGAATAGTAACGTCGAA , CM000669.1:g.117180217_117180218insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGAATAGTAACGTCGAA GRCh37
NC_000007.12:g.116967453_116967454insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGAATAGTAACGTCGAA NCBI36
NG_016465.4:g.79380_79381insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGAATAGTAACGTCGAA , LRG_663:g.79380_79381insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGAATAGTAACGTCGAA

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.933_934insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGAATAGTAACGTCGAA ENSP00000497673.2:p.Phe312ArgfsTer8
ENST00000647978.2:c.*830_*831insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGAATAGTAACGTCGAA ENSP00000497658.1:n.*830_*831insAGAACTGGA...
ENST00000649781.2:c.933_934insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGAATAGTAACGTCGAA ENSP00000497203.1:p.Phe312ArgfsTer8
ENST00000685018.2:c.933_934insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGAATAGTAACGTCGAA ENSP00000510194.2:p.Phe312ArgfsTer8
ENST00000687278.2:c.933_934insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGAATAGTAACGTCGAA ENSP00000509593.2:p.Phe312ArgfsTer8
ENST00000699585.1:c.933_934insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGAATAGTAACGTCGAA ENSP00000514456.1:p.Phe312ArgfsTer8
ENST00000699596.1:c.933_934insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGAATAGTAACGTCGAA ENSP00000514465.1:p.Phe312ArgfsTer8
ENST00000699597.1:c.933_934insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGAATAGTAACGTCGAA ENSP00000514466.1:p.Phe312ArgfsTer8
ENST00000699598.1:c.933_934insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGAATAGTAACGTCGAA ENSP00000514467.1:p.Phe312ArgfsTer8
ENST00000699599.1:c.933_934insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGAATAGTAACGTCGAA ENSP00000514468.1:p.Phe312ArgfsTer8
ENST00000699600.1:c.933_934insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGAATAGTAACGTCGAA ENSP00000514469.1:p.Phe312ArgfsTer8
ENST00000699601.1:c.933_934insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGAATAGTAACGTCGAA ENSP00000514470.1:p.Phe312ArgfsTer8
ENST00000699602.1:c.933_934insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGAATAGTAACGTCGAA ENSP00000514471.1:p.Phe312ArgfsTer8
ENST00000699604.1:c.*757_*758insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGAATAGTAACGTCGAA ENSP00000514472.1:n.*757_*758insAGAACTGGA...
ENST00000699605.1:c.690_691insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGAATAGTAACGTCGAA ENSP00000514473.1:p.Phe231ArgfsTer8
ENST00000003084.11:c.933_934insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGAATAGTAACGTCGAA MANE Select ENSP00000003084.6:p.Phe312ArgfsTer8
ENST00000647978.1:c.*830_*831insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGAATAGTAACGTCGAA ENSP00000497658.1:n.*830_*831insAGAACTGGA...
ENST00000648260.1:c.933_934insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGAATAGTAACGTCGAA ENSP00000497957.1:p.Phe312ArgfsTer8
ENST00000649406.1:c.933_934insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGAATAGTAACGTCGAA ENSP00000497965.1:p.Phe312ArgfsTer8
ENST00000649781.1:c.933_934insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGAATAGTAACGTCGAA ENSP00000497203.1:p.Phe312ArgfsTer8
ENST00000673785.1:c.690_691insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGAATAGTAACGTCGAA ENSP00000501235.1:p.Phe231ArgfsTer8
ENST00000003084.10:c.933_934insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGAATAGTAACGTCGAA ENSP00000003084.6:p.Phe312ArgfsTer8
ENST00000426809.5:c.843_844insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGAATAGTAACGTCGAA ENSP00000389119.1:p.Phe282ArgfsTer8
NM_000492.3:c.933_934insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGAATAGTAACGTCGAA , LRG_663t1:c.933_934insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGAATAGTAACGTCGAA NP_000483.3:p.Phe312ArgfsTer8
XM_011515751.1:c.1023_1024insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGAATAGTAACGTCGAA XP_011514053.1:p.Phe342ArgfsTer8
XM_011515752.1:c.1023_1024insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGAATAGTAACGTCGAA XP_011514054.1:p.Phe342ArgfsTer8
XM_011515753.1:c.690_691insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGAATAGTAACGTCGAA XP_011514055.1:p.Phe231ArgfsTer8
XM_011515754.1:c.690_691insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGAATAGTAACGTCGAA XP_011514056.1:p.Phe231ArgfsTer8
NM_000492.4:c.933_934insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGAATAGTAACGTCGAA MANE Select NP_000483.3:p.Phe312ArgfsTer8
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