Canonical Allele Identifier: CA260253
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117666873del , CM000669.2:g.117666873del GRCh38
NC_000007.13:g.117306927del , CM000669.1:g.117306927del GRCh37
NC_000007.12:g.117094163del NCBI36
NG_016465.4:g.206090del , LRG_663:g.206090del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.*452-35del ENSP00000497673.2:n.*452-35del
ENST00000647978.2:c.*3957-35del ENSP00000497658.1:n.*3957-35del
ENST00000649781.2:c.4060-35del ENSP00000497203.1:n.4060-35del
ENST00000685018.2:c.*456-35del ENSP00000510194.2:n.*456-35del
ENST00000687278.2:c.*896-729del ENSP00000509593.2:n.*896-729del
ENST00000699585.1:c.*677del ENSP00000514456.1:n.*677del
ENST00000699598.1:c.4243-42del ENSP00000514467.1:n.4243-42del
ENST00000699599.1:c.*456-35del ENSP00000514468.1:n.*456-35del
ENST00000699600.1:c.*904-729del ENSP00000514469.1:n.*904-729del
ENST00000699601.1:c.*2618-35del ENSP00000514470.1:n.*2618-35del
ENST00000699602.1:c.4237-35del ENSP00000514471.1:n.4237-35del
ENST00000699604.1:c.*4067-35del ENSP00000514472.1:n.*4067-35del
ENST00000699605.1:c.3817-35del ENSP00000514473.1:n.3817-35del
ENST00000699606.1:n.3719del
ENST00000685018.1:c.1107-35del ENSP00000510194.1:n.1107-35del
ENST00000687278.1:c.2030-729del ENSP00000509593.1:n.2030-729del
ENST00000689011.1:c.1050del
ENST00000003084.11:c.4243-35del MANE Select ENSP00000003084.6:n.4243-35del
ENST00000647720.1:c.1693-35del
ENST00000649781.1:c.4060-35del ENSP00000497203.1:n.4060-35del
ENST00000003084.10:c.4243-35del ENSP00000003084.6:n.4243-35del
ENST00000426809.5:c.4153-35del ENSP00000389119.1:n.4153-35del
ENST00000600166.1:c.368+1309del
NM_000492.3:c.4243-35del , LRG_663t1:c.4243-35del NP_000483.3:n.4243-35del
XM_011515751.1:c.4333-35del XP_011514053.1:n.4333-35del
XM_011515752.1:c.*208del XP_011514054.1:n.*208del
XM_011515753.1:c.4000-35del XP_011514055.1:n.4000-35del
XM_011515754.1:c.4000-35del XP_011514056.1:n.4000-35del
NM_000492.4:c.4243-35del MANE Select NP_000483.3:n.4243-35del