Canonical Allele Identifier: CA2695208506
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117592140_117592152delinsAGAA , CM000669.2:g.117592140_117592152delinsAGAA GRCh38
NC_000007.13:g.117232194_117232206delinsAGAA , CM000669.1:g.117232194_117232206delinsAGAA GRCh37
NC_000007.12:g.117019430_117019442delinsAGAA NCBI36
NG_016465.4:g.131357_131369delinsAGAA , LRG_663:g.131357_131369delinsAGAA

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.1973_1985delinsAGAA ENSP00000497673.2:p.Arg658_Leu662delinsLy...
ENST00000647978.2:c.*1687_*1699delinsAGAA ENSP00000497658.1:n.*1687_*1699delinsAGAA...
ENST00000649781.2:c.1790_1802delinsAGAA ENSP00000497203.1:p.Arg597_Leu601delinsLy...
ENST00000685018.2:c.1973_1985delinsAGAA ENSP00000510194.2:p.Arg658_Leu662delinsLy...
ENST00000687278.2:c.1973_1985delinsAGAA ENSP00000509593.2:p.Arg658_Leu662delinsLy...
ENST00000699585.1:c.1973_1985delinsAGAA ENSP00000514456.1:p.Arg658_Leu662delinsLy...
ENST00000699598.1:c.1973_1985delinsAGAA ENSP00000514467.1:p.Arg658_Leu662delinsLy...
ENST00000699599.1:c.1973_1985delinsAGAA ENSP00000514468.1:p.Arg658_Leu662delinsLy...
ENST00000699600.1:c.1973_1985delinsAGAA ENSP00000514469.1:p.Arg658_Leu662delinsLy...
ENST00000699601.1:c.*273_*285delinsAGAA ENSP00000514470.1:n.*273_*285delinsAGAA
ENST00000699602.1:c.1973_1985delinsAGAA ENSP00000514471.1:p.Arg658_Leu662delinsLy...
ENST00000699604.1:c.*1797_*1809delinsAGAA ENSP00000514472.1:n.*1797_*1809delinsAGAA...
ENST00000699605.1:c.1547_1559delinsAGAA ENSP00000514473.1:p.Arg516_Leu520delinsLy...
ENST00000003084.11:c.1973_1985delinsAGAA MANE Select ENSP00000003084.6:p.Arg658_Leu662delinsLy...
ENST00000647978.1:c.*1687_*1699delinsAGAA ENSP00000497658.1:n.*1687_*1699delinsAGAA...
ENST00000648260.1:c.1402-10686_1402-10674delinsAGAA ENSP00000497957.1:n.1402-10686_1402-10674...
ENST00000649406.1:c.1790_1802delinsAGAA ENSP00000497965.1:p.Arg597_Leu601delinsLy...
ENST00000649781.1:c.1790_1802delinsAGAA ENSP00000497203.1:p.Arg597_Leu601delinsLy...
ENST00000003084.10:c.1973_1985delinsAGAA ENSP00000003084.6:p.Arg658_Leu662delinsLy...
ENST00000426809.5:c.1883_1895delinsAGAA ENSP00000389119.1:p.Arg628_Leu632delinsLy...
NM_000492.3:c.1973_1985delinsAGAA , LRG_663t1:c.1973_1985delinsAGAA NP_000483.3:p.Arg658_Leu662delinsLysLys
XM_011515751.1:c.2063_2075delinsAGAA XP_011514053.1:p.Arg688_Leu692delinsLysLy...
XM_011515752.1:c.2063_2075delinsAGAA XP_011514054.1:p.Arg688_Leu692delinsLysLy...
XM_011515753.1:c.1730_1742delinsAGAA XP_011514055.1:p.Arg577_Leu581delinsLysLy...
XM_011515754.1:c.1730_1742delinsAGAA XP_011514056.1:p.Arg577_Leu581delinsLysLy...
NM_000492.4:c.1973_1985delinsAGAA MANE Select NP_000483.3:p.Arg658_Leu662delinsLysLys