Canonical Allele Identifier: CA368974739
Gene: CFTR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117642493_117642494insA , CM000669.2:g.117642493_117642494insA GRCh38
NC_000007.13:g.117282547_117282548insA , CM000669.1:g.117282547_117282548insA GRCh37
NC_000007.12:g.117069783_117069784insA NCBI36
NG_016465.4:g.181710_181711insA , LRG_663:g.181710_181711insA

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.3573_3574insA ENSP00000497673.2:p.Glu1192ArgfsTer4
ENST00000647978.2:c.*3487_*3488insA ENSP00000497658.1:n.*3487_*3488insA
ENST00000649781.2:c.3590_3591insA ENSP00000497203.1:p.Arg1198GlufsTer6
ENST00000685018.2:c.3773_3774insA ENSP00000510194.2:p.Arg1259GlufsTer6
ENST00000687278.2:c.*426_*427insA ENSP00000509593.2:n.*426_*427insA
ENST00000699585.1:c.3573_3574insA ENSP00000514456.1:p.Glu1192ArgfsTer4
ENST00000699598.1:c.3773_3774insA ENSP00000514467.1:p.Arg1259GlufsTer6
ENST00000699599.1:c.3773_3774insA ENSP00000514468.1:p.Arg1259GlufsTer6
ENST00000699600.1:c.*434_*435insA ENSP00000514469.1:n.*434_*435insA
ENST00000699601.1:c.*2148_*2149insA ENSP00000514470.1:n.*2148_*2149insA
ENST00000699602.1:c.3767_3768insA ENSP00000514471.1:p.Arg1257GlufsTer6
ENST00000699604.1:c.*3597_*3598insA ENSP00000514472.1:n.*3597_*3598insA
ENST00000699605.1:c.3347_3348insA ENSP00000514473.1:p.Arg1117GlufsTer6
ENST00000685018.1:c.521_522insA ENSP00000510194.1:p.Arg175GlufsTer6
ENST00000687278.1:c.1560_1561insA ENSP00000509593.1:n.1560_1561insA
ENST00000689011.1:c.355_356insA
ENST00000003084.11:c.3773_3774insA MANE Select ENSP00000003084.6:p.Arg1259GlufsTer6
ENST00000647720.1:c.1223_1224insA
ENST00000649781.1:c.3590_3591insA ENSP00000497203.1:p.Arg1198GlufsTer6
ENST00000003084.10:c.3773_3774insA ENSP00000003084.6:p.Arg1259GlufsTer6
ENST00000426809.5:c.3683_3684insA ENSP00000389119.1:p.Arg1229GlufsTer6
NM_000492.3:c.3773_3774insA , LRG_663t1:c.3773_3774insA NP_000483.3:p.Arg1259GlufsTer6
XM_011515751.1:c.3863_3864insA XP_011514053.1:p.Arg1289GlufsTer6
XM_011515752.1:c.3863_3864insA XP_011514054.1:p.Arg1289GlufsTer6
XM_011515753.1:c.3530_3531insA XP_011514055.1:p.Arg1178GlufsTer6
XM_011515754.1:c.3530_3531insA XP_011514056.1:p.Arg1178GlufsTer6
NM_000492.4:c.3773_3774insA MANE Select NP_000483.3:p.Arg1259GlufsTer6