Canonical Allele Identifier: CA2695208372
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117614632del , CM000669.2:g.117614632del GRCh38
NC_000007.13:g.117254686del , CM000669.1:g.117254686del GRCh37
NC_000007.12:g.117041922del NCBI36
NG_016465.4:g.153849del , LRG_663:g.153849del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.3387del ENSP00000497673.2:p.Gly1130ValfsTer4
ENST00000647978.2:c.*3101del ENSP00000497658.1:n.*3101del
ENST00000649781.2:c.3204del ENSP00000497203.1:p.Gly1069ValfsTer4
ENST00000685018.2:c.3387del ENSP00000510194.2:p.Gly1130ValfsTer4
ENST00000687278.2:c.3387del ENSP00000509593.2:p.Gly1130ValfsTer4
ENST00000699585.1:c.3387del ENSP00000514456.1:p.Gly1130ValfsTer4
ENST00000699598.1:c.3387del ENSP00000514467.1:p.Gly1130ValfsTer4
ENST00000699599.1:c.3387del ENSP00000514468.1:p.Gly1130ValfsTer4
ENST00000699600.1:c.3387del ENSP00000514469.1:p.Gly1130ValfsTer4
ENST00000699601.1:c.*1762del ENSP00000514470.1:n.*1762del
ENST00000699602.1:c.3381del ENSP00000514471.1:p.Gly1128ValfsTer4
ENST00000699604.1:c.*3211del ENSP00000514472.1:n.*3211del
ENST00000699605.1:c.2961del ENSP00000514473.1:p.Gly988ValfsTer4
ENST00000685018.1:c.135del ENSP00000510194.1:p.Gly46ValfsTer4
ENST00000687278.1:c.978del ENSP00000509593.1:p.Gly327ValfsTer4
ENST00000003084.11:c.3387del MANE Select ENSP00000003084.6:p.Gly1130ValfsTer4
ENST00000647720.1:c.1037del
ENST00000648260.1:c.2169del ENSP00000497957.1:p.Gly724ValfsTer4
ENST00000649406.1:c.3204del ENSP00000497965.1:p.Gly1069ValfsTer4
ENST00000649781.1:c.3204del ENSP00000497203.1:p.Gly1069ValfsTer4
ENST00000003084.10:c.3387del ENSP00000003084.6:p.Gly1130ValfsTer4
ENST00000426809.5:c.3297del ENSP00000389119.1:p.Gly1100ValfsTer4
ENST00000468795.1:c.212del
NM_000492.3:c.3387del , LRG_663t1:c.3387del NP_000483.3:p.Gly1130ValfsTer4
XM_011515751.1:c.3477del XP_011514053.1:p.Gly1160ValfsTer4
XM_011515752.1:c.3477del XP_011514054.1:p.Gly1160ValfsTer4
XM_011515753.1:c.3144del XP_011514055.1:p.Gly1049ValfsTer4
XM_011515754.1:c.3144del XP_011514056.1:p.Gly1049ValfsTer4
NM_000492.4:c.3387del MANE Select NP_000483.3:p.Gly1130ValfsTer4