Canonical Allele Identifier: CA2684619363
Gene: CFTR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117592609del , CM000669.2:g.117592609del GRCh38
NC_000007.13:g.117232663del , CM000669.1:g.117232663del GRCh37
NC_000007.12:g.117019899del NCBI36
NG_016465.4:g.131826del , LRG_663:g.131826del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.2442del ENSP00000497673.2:p.Glu815LysfsTer6
ENST00000647978.2:c.*2156del ENSP00000497658.1:n.*2156del
ENST00000649781.2:c.2259del ENSP00000497203.1:p.Glu754LysfsTer6
ENST00000685018.2:c.2442del ENSP00000510194.2:p.Glu815LysfsTer6
ENST00000687278.2:c.2442del ENSP00000509593.2:p.Glu815LysfsTer6
ENST00000699585.1:c.2442del ENSP00000514456.1:p.Glu815LysfsTer6
ENST00000699598.1:c.2442del ENSP00000514467.1:p.Glu815LysfsTer6
ENST00000699599.1:c.2442del ENSP00000514468.1:p.Glu815LysfsTer6
ENST00000699600.1:c.2442del ENSP00000514469.1:p.Glu815LysfsTer6
ENST00000699601.1:c.*742del ENSP00000514470.1:n.*742del
ENST00000699602.1:c.2442del ENSP00000514471.1:p.Glu815LysfsTer6
ENST00000699604.1:c.*2266del ENSP00000514472.1:n.*2266del
ENST00000699605.1:c.2016del ENSP00000514473.1:p.Glu673LysfsTer6
ENST00000687278.1:c.33del ENSP00000509593.1:p.Glu12LysfsTer6
ENST00000003084.11:c.2442del MANE Select ENSP00000003084.6:p.Glu815LysfsTer6
ENST00000647720.1:c.92del
ENST00000647978.1:c.*2156del ENSP00000497658.1:n.*2156del
ENST00000648260.1:c.1402-10217del ENSP00000497957.1:n.1402-10217del
ENST00000649406.1:c.2259del ENSP00000497965.1:p.Glu754LysfsTer6
ENST00000649781.1:c.2259del ENSP00000497203.1:p.Glu754LysfsTer6
ENST00000003084.10:c.2442del ENSP00000003084.6:p.Glu815LysfsTer6
ENST00000426809.5:c.2352del ENSP00000389119.1:p.Glu785LysfsTer6
NM_000492.3:c.2442del , LRG_663t1:c.2442del NP_000483.3:p.Glu815LysfsTer6
XM_011515751.1:c.2532del XP_011514053.1:p.Glu845LysfsTer6
XM_011515752.1:c.2532del XP_011514054.1:p.Glu845LysfsTer6
XM_011515753.1:c.2199del XP_011514055.1:p.Glu734LysfsTer6
XM_011515754.1:c.2199del XP_011514056.1:p.Glu734LysfsTer6
NM_000492.4:c.2442del MANE Select NP_000483.3:p.Glu815LysfsTer6