Canonical Allele Identifier: CA326620
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 53349
dbSNP Id: rs397508274

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117590376del , CM000669.2:g.117590376del GRCh38
NC_000007.13:g.117230430del , CM000669.1:g.117230430del GRCh37
NC_000007.12:g.117017666del NCBI36
NG_016465.4:g.129593del , LRG_663:g.129593del

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.1703del ENSP00000497673.2:p.Leu568CysfsTer4
ENST00000647978.2:c.*1417del ENSP00000497658.1:n.*1417del
ENST00000649781.2:c.1520del ENSP00000497203.1:p.Leu507CysfsTer4
ENST00000685018.2:c.1703del ENSP00000510194.2:p.Leu568CysfsTer4
ENST00000687278.2:c.1703del ENSP00000509593.2:p.Leu568CysfsTer4
ENST00000699585.1:c.1703del ENSP00000514456.1:p.Leu568CysfsTer4
ENST00000699598.1:c.1703del ENSP00000514467.1:p.Leu568CysfsTer4
ENST00000699599.1:c.1703del ENSP00000514468.1:p.Leu568CysfsTer4
ENST00000699600.1:c.1703del ENSP00000514469.1:p.Leu568CysfsTer4
ENST00000699601.1:c.*3del ENSP00000514470.1:n.*3del
ENST00000699602.1:c.1703del ENSP00000514471.1:p.Leu568CysfsTer4
ENST00000699604.1:c.*1527del ENSP00000514472.1:n.*1527del
ENST00000699605.1:c.1277del ENSP00000514473.1:p.Leu426CysfsTer4
ENST00000003084.11:c.1703del MANE Select ENSP00000003084.6:p.Leu568CysfsTer4
ENST00000647978.1:c.*1417del ENSP00000497658.1:n.*1417del
ENST00000648260.1:c.1402-12450del ENSP00000497957.1:n.1402-12450del
ENST00000649406.1:c.1520del ENSP00000497965.1:p.Leu507CysfsTer4
ENST00000649781.1:c.1520del ENSP00000497203.1:p.Leu507CysfsTer4
ENST00000003084.10:c.1703del ENSP00000003084.6:p.Leu568CysfsTer4
ENST00000426809.5:c.1613del ENSP00000389119.1:p.Leu538CysfsTer4
NM_000492.3:c.1703del , LRG_663t1:c.1703del NP_000483.3:p.Leu568CysfsTer4
XM_011515751.1:c.1793del XP_011514053.1:p.Leu598CysfsTer4
XM_011515752.1:c.1793del XP_011514054.1:p.Leu598CysfsTer4
XM_011515753.1:c.1460del XP_011514055.1:p.Leu487CysfsTer4
XM_011515754.1:c.1460del XP_011514056.1:p.Leu487CysfsTer4
NM_000492.4:c.1703del MANE Select NP_000483.3:p.Leu568CysfsTer4