Canonical Allele Identifier: CA2573141690
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 1407355
ClinVar RCV Id: RCV001918398
dbSNP Id: rs2116032118

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117592313_117592314insTTTCCATTGTGC , CM000669.2:g.117592313_117592314insTTTCCATTGTGC GRCh38
NC_000007.13:g.117232367_117232368insTTTCCATTGTGC , CM000669.1:g.117232367_117232368insTTTCCATTGTGC GRCh37
NC_000007.12:g.117019603_117019604insTTTCCATTGTGC NCBI36
NG_016465.4:g.131530_131531insTTTCCATTGTGC , LRG_663:g.131530_131531insTTTCCATTGTGC

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.2146_2147insTTTCCATTGTGC ENSP00000497673.2:p.Lys716delinsIleSerIle...
ENST00000647978.2:c.*1860_*1861insTTTCCATTGTGC ENSP00000497658.1:n.*1860_*1861insTTTCCAT...
ENST00000649781.2:c.1963_1964insTTTCCATTGTGC ENSP00000497203.1:p.Lys655delinsIleSerIle...
ENST00000685018.2:c.2146_2147insTTTCCATTGTGC ENSP00000510194.2:p.Lys716delinsIleSerIle...
ENST00000687278.2:c.2146_2147insTTTCCATTGTGC ENSP00000509593.2:p.Lys716delinsIleSerIle...
ENST00000699585.1:c.2146_2147insTTTCCATTGTGC ENSP00000514456.1:p.Lys716delinsIleSerIle...
ENST00000699598.1:c.2146_2147insTTTCCATTGTGC ENSP00000514467.1:p.Lys716delinsIleSerIle...
ENST00000699599.1:c.2146_2147insTTTCCATTGTGC ENSP00000514468.1:p.Lys716delinsIleSerIle...
ENST00000699600.1:c.2146_2147insTTTCCATTGTGC ENSP00000514469.1:p.Lys716delinsIleSerIle...
ENST00000699601.1:c.*446_*447insTTTCCATTGTGC ENSP00000514470.1:n.*446_*447insTTTCCATTG...
ENST00000699602.1:c.2146_2147insTTTCCATTGTGC ENSP00000514471.1:p.Lys716delinsIleSerIle...
ENST00000699604.1:c.*1970_*1971insTTTCCATTGTGC ENSP00000514472.1:n.*1970_*1971insTTTCCAT...
ENST00000699605.1:c.1720_1721insTTTCCATTGTGC ENSP00000514473.1:p.Lys574delinsIleSerIle...
ENST00000003084.11:c.2146_2147insTTTCCATTGTGC MANE Select ENSP00000003084.6:p.Lys716delinsIleSerIle...
ENST00000647978.1:c.*1860_*1861insTTTCCATTGTGC ENSP00000497658.1:n.*1860_*1861insTTTCCAT...
ENST00000648260.1:c.1402-10513_1402-10512insTTTCCATTGTGC ENSP00000497957.1:n.1402-10513_1402-10512...
ENST00000649406.1:c.1963_1964insTTTCCATTGTGC ENSP00000497965.1:p.Lys655delinsIleSerIle...
ENST00000649781.1:c.1963_1964insTTTCCATTGTGC ENSP00000497203.1:p.Lys655delinsIleSerIle...
ENST00000003084.10:c.2146_2147insTTTCCATTGTGC ENSP00000003084.6:p.Lys716delinsIleSerIle...
ENST00000426809.5:c.2056_2057insTTTCCATTGTGC ENSP00000389119.1:p.Lys686delinsIleSerIle...
NM_000492.3:c.2146_2147insTTTCCATTGTGC , LRG_663t1:c.2146_2147insTTTCCATTGTGC NP_000483.3:p.Lys716delinsIleSerIleValGln...
XM_011515751.1:c.2236_2237insTTTCCATTGTGC XP_011514053.1:p.Lys746delinsIleSerIleVal...
XM_011515752.1:c.2236_2237insTTTCCATTGTGC XP_011514054.1:p.Lys746delinsIleSerIleVal...
XM_011515753.1:c.1903_1904insTTTCCATTGTGC XP_011514055.1:p.Lys635delinsIleSerIleVal...
XM_011515754.1:c.1903_1904insTTTCCATTGTGC XP_011514056.1:p.Lys635delinsIleSerIleVal...
NM_000492.4:c.2146_2147insTTTCCATTGTGC MANE Select NP_000483.3:p.Lys716delinsIleSerIleValGln...