Canonical Allele Identifier: CA327327
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 53839
dbSNP Id: rs397508630

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117652851del , CM000669.2:g.117652851del GRCh38
NC_000007.13:g.117292905del , CM000669.1:g.117292905del GRCh37
NC_000007.12:g.117080141del NCBI36
NG_016465.4:g.192068del , LRG_663:g.192068del

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.*92del ENSP00000497673.2:n.*92del
ENST00000647978.2:c.*3597del ENSP00000497658.1:n.*3597del
ENST00000649781.2:c.3700del ENSP00000497203.1:p.Ile1234PhefsTer?
ENST00000685018.2:c.*96del ENSP00000510194.2:n.*96del
ENST00000687278.2:c.*536del ENSP00000509593.2:n.*536del
ENST00000699585.1:c.*92del ENSP00000514456.1:n.*92del
ENST00000699598.1:c.3883del ENSP00000514467.1:p.Ile1295PhefsTer?
ENST00000699599.1:c.*96del ENSP00000514468.1:n.*96del
ENST00000699600.1:c.*544del ENSP00000514469.1:n.*544del
ENST00000699601.1:c.*2258del ENSP00000514470.1:n.*2258del
ENST00000699602.1:c.3877del ENSP00000514471.1:p.Ile1293PhefsTer?
ENST00000699604.1:c.*3707del ENSP00000514472.1:n.*3707del
ENST00000699605.1:c.3457del ENSP00000514473.1:p.Ile1153PhefsTer?
ENST00000699606.1:n.2051del
ENST00000685018.1:c.747del ENSP00000510194.1:n.747del
ENST00000687278.1:c.1670del ENSP00000509593.1:n.1670del
ENST00000689011.1:c.465del
ENST00000003084.11:c.3883del MANE Select ENSP00000003084.6:p.Ile1295PhefsTer?
ENST00000647720.1:c.1333del
ENST00000649781.1:c.3700del ENSP00000497203.1:p.Ile1234PhefsTer?
ENST00000003084.10:c.3883del ENSP00000003084.6:p.Ile1295PhefsTer?
ENST00000426809.5:c.3793del ENSP00000389119.1:p.Ile1265PhefsTer?
ENST00000600166.1:c.9del
NM_000492.3:c.3883del , LRG_663t1:c.3883del NP_000483.3:p.Ile1295PhefsTer?
XM_011515751.1:c.3973del XP_011514053.1:p.Ile1325PhefsTer?
XM_011515752.1:c.3973del XP_011514054.1:p.Ile1325PhefsTer?
XM_011515753.1:c.3640del XP_011514055.1:p.Ile1214PhefsTer?
XM_011515754.1:c.3640del XP_011514056.1:p.Ile1214PhefsTer?
NM_000492.4:c.3883del MANE Select NP_000483.3:p.Ile1295PhefsTer?