Canonical Allele Identifier: CA2579000098
Gene: CFTR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117592250del , CM000669.2:g.117592250del GRCh38
NC_000007.13:g.117232304del , CM000669.1:g.117232304del GRCh37
NC_000007.12:g.117019540del NCBI36
NG_016465.4:g.131467del , LRG_663:g.131467del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.2083del ENSP00000497673.2:p.Glu695LysfsTer27
ENST00000647978.2:c.*1797del ENSP00000497658.1:n.*1797del
ENST00000649781.2:c.1900del ENSP00000497203.1:p.Glu634LysfsTer27
ENST00000685018.2:c.2083del ENSP00000510194.2:p.Glu695LysfsTer27
ENST00000687278.2:c.2083del ENSP00000509593.2:p.Glu695LysfsTer27
ENST00000699585.1:c.2083del ENSP00000514456.1:p.Glu695LysfsTer27
ENST00000699598.1:c.2083del ENSP00000514467.1:p.Glu695LysfsTer27
ENST00000699599.1:c.2083del ENSP00000514468.1:p.Glu695LysfsTer27
ENST00000699600.1:c.2083del ENSP00000514469.1:p.Glu695LysfsTer27
ENST00000699601.1:c.*383del ENSP00000514470.1:n.*383del
ENST00000699602.1:c.2083del ENSP00000514471.1:p.Glu695LysfsTer27
ENST00000699604.1:c.*1907del ENSP00000514472.1:n.*1907del
ENST00000699605.1:c.1657del ENSP00000514473.1:p.Glu553LysfsTer27
ENST00000003084.11:c.2083del MANE Select ENSP00000003084.6:p.Glu695LysfsTer27
ENST00000647978.1:c.*1797del ENSP00000497658.1:n.*1797del
ENST00000648260.1:c.1402-10576del ENSP00000497957.1:n.1402-10576del
ENST00000649406.1:c.1900del ENSP00000497965.1:p.Glu634LysfsTer27
ENST00000649781.1:c.1900del ENSP00000497203.1:p.Glu634LysfsTer27
ENST00000003084.10:c.2083del ENSP00000003084.6:p.Glu695LysfsTer27
ENST00000426809.5:c.1993del ENSP00000389119.1:p.Glu665LysfsTer27
NM_000492.3:c.2083del , LRG_663t1:c.2083del NP_000483.3:p.Glu695LysfsTer27
XM_011515751.1:c.2173del XP_011514053.1:p.Glu725LysfsTer27
XM_011515752.1:c.2173del XP_011514054.1:p.Glu725LysfsTer27
XM_011515753.1:c.1840del XP_011514055.1:p.Glu614LysfsTer27
XM_011515754.1:c.1840del XP_011514056.1:p.Glu614LysfsTer27
NM_000492.4:c.2083del MANE Select NP_000483.3:p.Glu695LysfsTer27