Canonical Allele Identifier: CA1737375230
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117603698_117603699delinsAT , CM000669.2:g.117603698_117603699delinsAT GRCh38
NC_000007.13:g.117243752_117243753delinsAT , CM000669.1:g.117243752_117243753delinsAT GRCh37
NC_000007.12:g.117030988_117030989delinsAT NCBI36
NG_016465.4:g.142915_142916delinsAT , LRG_663:g.142915_142916delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.2824_2825delinsAT ENSP00000497673.2:p.Ile942=
ENST00000647978.2:c.*2538_*2539delinsAT ENSP00000497658.1:n.*2538_*2539delinsAT
ENST00000649781.2:c.2641_2642delinsAT ENSP00000497203.1:p.Ile881=
ENST00000685018.2:c.2824_2825delinsAT ENSP00000510194.2:p.Ile942=
ENST00000687278.2:c.2824_2825delinsAT ENSP00000509593.2:p.Ile942=
ENST00000699585.1:c.2824_2825delinsAT ENSP00000514456.1:p.Ile942=
ENST00000699598.1:c.2824_2825delinsAT ENSP00000514467.1:p.Ile942=
ENST00000699599.1:c.2824_2825delinsAT ENSP00000514468.1:p.Ile942=
ENST00000699600.1:c.2824_2825delinsAT ENSP00000514469.1:p.Ile942=
ENST00000699601.1:c.*1124_*1125delinsAT ENSP00000514470.1:n.*1124_*1125delinsAT
ENST00000699602.1:c.2824_2825delinsAT ENSP00000514471.1:p.Ile942=
ENST00000699604.1:c.*2648_*2649delinsAT ENSP00000514472.1:n.*2648_*2649delinsAT
ENST00000699605.1:c.2398_2399delinsAT ENSP00000514473.1:p.Ile800=
ENST00000687278.1:c.415_416delinsAT ENSP00000509593.1:p.Ile139=
ENST00000003084.11:c.2824_2825delinsAT MANE Select ENSP00000003084.6:p.Ile942=
ENST00000647720.1:c.474_475delinsAT
ENST00000648260.1:c.1606_1607delinsAT ENSP00000497957.1:p.Ile536=
ENST00000649406.1:c.2641_2642delinsAT ENSP00000497965.1:p.Ile881=
ENST00000649781.1:c.2641_2642delinsAT ENSP00000497203.1:p.Ile881=
ENST00000003084.10:c.2824_2825delinsAT ENSP00000003084.6:p.Ile942=
ENST00000426809.5:c.2734_2735delinsAT ENSP00000389119.1:p.Ile912=
NM_000492.3:c.2824_2825delinsAT , LRG_663t1:c.2824_2825delinsAT NP_000483.3:p.Ile942=
XM_011515751.1:c.2914_2915delinsAT XP_011514053.1:p.Ile972=
XM_011515752.1:c.2914_2915delinsAT XP_011514054.1:p.Ile972=
XM_011515753.1:c.2581_2582delinsAT XP_011514055.1:p.Ile861=
XM_011515754.1:c.2581_2582delinsAT XP_011514056.1:p.Ile861=
NM_000492.4:c.2824_2825delinsAT MANE Select NP_000483.3:p.Ile942=