Canonical Allele Identifier: CA1737375556
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117603770_117603771delinsAC , CM000669.2:g.117603770_117603771delinsAC GRCh38
NC_000007.13:g.117243824_117243825delinsAC , CM000669.1:g.117243824_117243825delinsAC GRCh37
NC_000007.12:g.117031060_117031061delinsAC NCBI36
NG_016465.4:g.142987_142988delinsAC , LRG_663:g.142987_142988delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.2896_2897delinsAC ENSP00000497673.2:p.Thr966=
ENST00000647978.2:c.*2610_*2611delinsAC ENSP00000497658.1:n.*2610_*2611delinsAC
ENST00000649781.2:c.2713_2714delinsAC ENSP00000497203.1:p.Thr905=
ENST00000685018.2:c.2896_2897delinsAC ENSP00000510194.2:p.Thr966=
ENST00000687278.2:c.2896_2897delinsAC ENSP00000509593.2:p.Thr966=
ENST00000699585.1:c.2896_2897delinsAC ENSP00000514456.1:p.Thr966=
ENST00000699598.1:c.2896_2897delinsAC ENSP00000514467.1:p.Thr966=
ENST00000699599.1:c.2896_2897delinsAC ENSP00000514468.1:p.Thr966=
ENST00000699600.1:c.2896_2897delinsAC ENSP00000514469.1:p.Thr966=
ENST00000699601.1:c.*1196_*1197delinsAC ENSP00000514470.1:n.*1196_*1197delinsAC
ENST00000699602.1:c.2896_2897delinsAC ENSP00000514471.1:p.Thr966=
ENST00000699604.1:c.*2720_*2721delinsAC ENSP00000514472.1:n.*2720_*2721delinsAC
ENST00000699605.1:c.2470_2471delinsAC ENSP00000514473.1:p.Thr824=
ENST00000687278.1:c.487_488delinsAC ENSP00000509593.1:p.Thr163=
ENST00000003084.11:c.2896_2897delinsAC MANE Select ENSP00000003084.6:p.Thr966=
ENST00000647720.1:c.546_547delinsAC
ENST00000648260.1:c.1678_1679delinsAC ENSP00000497957.1:p.Thr560=
ENST00000649406.1:c.2713_2714delinsAC ENSP00000497965.1:p.Thr905=
ENST00000649781.1:c.2713_2714delinsAC ENSP00000497203.1:p.Thr905=
ENST00000003084.10:c.2896_2897delinsAC ENSP00000003084.6:p.Thr966=
ENST00000426809.5:c.2806_2807delinsAC ENSP00000389119.1:p.Thr936=
NM_000492.3:c.2896_2897delinsAC , LRG_663t1:c.2896_2897delinsAC NP_000483.3:p.Thr966=
XM_011515751.1:c.2986_2987delinsAC XP_011514053.1:p.Thr996=
XM_011515752.1:c.2986_2987delinsAC XP_011514054.1:p.Thr996=
XM_011515753.1:c.2653_2654delinsAC XP_011514055.1:p.Thr885=
XM_011515754.1:c.2653_2654delinsAC XP_011514056.1:p.Thr885=
NM_000492.4:c.2896_2897delinsAC MANE Select NP_000483.3:p.Thr966=