Canonical Allele Identifier: CA2582341938
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 2627544
ClinVar RCV Id: RCV003388807

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117664747del , CM000669.2:g.117664747del GRCh38
NC_000007.13:g.117304801del , CM000669.1:g.117304801del GRCh37
NC_000007.12:g.117092037del NCBI36
NG_016465.4:g.203964del , LRG_663:g.203964del

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.*232del ENSP00000497673.2:n.*232del
ENST00000647978.2:c.*3737del ENSP00000497658.1:n.*3737del
ENST00000649781.2:c.3840del ENSP00000497203.1:p.Asp1280GlufsTer6
ENST00000685018.2:c.*236del ENSP00000510194.2:n.*236del
ENST00000687278.2:c.*676del ENSP00000509593.2:n.*676del
ENST00000699585.1:c.*232del ENSP00000514456.1:n.*232del
ENST00000699598.1:c.4023del ENSP00000514467.1:p.Asp1341GlufsTer6
ENST00000699599.1:c.*236del ENSP00000514468.1:n.*236del
ENST00000699600.1:c.*684del ENSP00000514469.1:n.*684del
ENST00000699601.1:c.*2398del ENSP00000514470.1:n.*2398del
ENST00000699602.1:c.4017del ENSP00000514471.1:p.Asp1339GlufsTer6
ENST00000699604.1:c.*3847del ENSP00000514472.1:n.*3847del
ENST00000699605.1:c.3597del ENSP00000514473.1:p.Asp1199GlufsTer6
ENST00000699606.1:n.2191del
ENST00000685018.1:c.887del ENSP00000510194.1:n.887del
ENST00000687278.1:c.1810del ENSP00000509593.1:n.1810del
ENST00000689011.1:c.605del
ENST00000003084.11:c.4023del MANE Select ENSP00000003084.6:p.Asp1341GlufsTer6
ENST00000647720.1:c.1473del
ENST00000649781.1:c.3840del ENSP00000497203.1:p.Asp1280GlufsTer6
ENST00000003084.10:c.4023del ENSP00000003084.6:p.Asp1341GlufsTer6
ENST00000426809.5:c.3933del ENSP00000389119.1:p.Asp1311GlufsTer6
ENST00000600166.1:c.149del
NM_000492.3:c.4023del , LRG_663t1:c.4023del NP_000483.3:p.Asp1341GlufsTer6
XM_011515751.1:c.4113del XP_011514053.1:p.Asp1371GlufsTer6
XM_011515752.1:c.4113del XP_011514054.1:p.Asp1371GlufsTer6
XM_011515753.1:c.3780del XP_011514055.1:p.Asp1260GlufsTer6
XM_011515754.1:c.3780del XP_011514056.1:p.Asp1260GlufsTer6
NM_000492.4:c.4023del MANE Select NP_000483.3:p.Asp1341GlufsTer6