Canonical Allele Identifier: CA327326
Gene: CFTR HGNC NCBI

Linked Data

dbSNP Id: rs387906373

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117652851_117652854del , CM000669.2:g.117652851_117652854del GRCh38
NC_000007.13:g.117292905_117292908del , CM000669.1:g.117292905_117292908del GRCh37
NC_000007.12:g.117080141_117080144del NCBI36
NG_016465.4:g.192068_192071del , LRG_663:g.192068_192071del

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.*92_*95del ENSP00000497673.2:n.*92_*95del
ENST00000647978.2:c.*3597_*3600del ENSP00000497658.1:n.*3597_*3600del
ENST00000649781.2:c.3700_3703del ENSP00000497203.1:p.Ile1234PhefsTer?
ENST00000685018.2:c.*96_*99del ENSP00000510194.2:n.*96_*99del
ENST00000687278.2:c.*536_*539del ENSP00000509593.2:n.*536_*539del
ENST00000699585.1:c.*92_*95del ENSP00000514456.1:n.*92_*95del
ENST00000699598.1:c.3883_3886del ENSP00000514467.1:p.Ile1295PhefsTer?
ENST00000699599.1:c.*96_*99del ENSP00000514468.1:n.*96_*99del
ENST00000699600.1:c.*544_*547del ENSP00000514469.1:n.*544_*547del
ENST00000699601.1:c.*2258_*2261del ENSP00000514470.1:n.*2258_*2261del
ENST00000699602.1:c.3877_3880del ENSP00000514471.1:p.Ile1293PhefsTer?
ENST00000699604.1:c.*3707_*3710del ENSP00000514472.1:n.*3707_*3710del
ENST00000699605.1:c.3457_3460del ENSP00000514473.1:p.Ile1153PhefsTer?
ENST00000699606.1:n.2051_2054del
ENST00000685018.1:c.747_750del ENSP00000510194.1:n.747_750del
ENST00000687278.1:c.1670_1673del ENSP00000509593.1:n.1670_1673del
ENST00000689011.1:c.465_468del
ENST00000003084.11:c.3883_3886del MANE Select ENSP00000003084.6:p.Ile1295PhefsTer?
ENST00000647720.1:c.1333_1336del
ENST00000649781.1:c.3700_3703del ENSP00000497203.1:p.Ile1234PhefsTer?
ENST00000003084.10:c.3883_3886del ENSP00000003084.6:p.Ile1295PhefsTer?
ENST00000426809.5:c.3793_3796del ENSP00000389119.1:p.Ile1265PhefsTer?
ENST00000600166.1:c.9_12del
NM_000492.3:c.3883_3886del , LRG_663t1:c.3883_3886del NP_000483.3:p.Ile1295PhefsTer?
XM_011515751.1:c.3973_3976del XP_011514053.1:p.Ile1325PhefsTer?
XM_011515752.1:c.3973_3976del XP_011514054.1:p.Ile1325PhefsTer?
XM_011515753.1:c.3640_3643del XP_011514055.1:p.Ile1214PhefsTer?
XM_011515754.1:c.3640_3643del XP_011514056.1:p.Ile1214PhefsTer?
NM_000492.4:c.3883_3886del MANE Select NP_000483.3:p.Ile1295PhefsTer?