Canonical Allele Identifier: CA2695208312
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117540296_117540301delinsA , CM000669.2:g.117540296_117540301delinsA GRCh38
NC_000007.13:g.117180350_117180355delinsA , CM000669.1:g.117180350_117180355delinsA GRCh37
NC_000007.12:g.116967586_116967591delinsA NCBI36
NG_016465.4:g.79513_79518delinsA , LRG_663:g.79513_79518delinsA

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.1066_1071delinsA ENSP00000497673.2:p.Trp356SerfsTer6
ENST00000647978.2:c.*963_*968delinsA ENSP00000497658.1:n.*963_*968delinsA
ENST00000649781.2:c.1066_1071delinsA ENSP00000497203.1:p.Trp356SerfsTer6
ENST00000685018.2:c.1066_1071delinsA ENSP00000510194.2:p.Trp356SerfsTer6
ENST00000687278.2:c.1066_1071delinsA ENSP00000509593.2:p.Trp356SerfsTer6
ENST00000699585.1:c.1066_1071delinsA ENSP00000514456.1:p.Trp356SerfsTer6
ENST00000699596.1:c.1066_1071delinsA ENSP00000514465.1:p.Trp356SerfsTer6
ENST00000699597.1:c.1066_1071delinsA ENSP00000514466.1:p.Trp356SerfsTer6
ENST00000699598.1:c.1066_1071delinsA ENSP00000514467.1:p.Trp356SerfsTer6
ENST00000699599.1:c.1066_1071delinsA ENSP00000514468.1:p.Trp356SerfsTer6
ENST00000699600.1:c.1066_1071delinsA ENSP00000514469.1:p.Trp356SerfsTer6
ENST00000699601.1:c.1066_1071delinsA ENSP00000514470.1:p.Trp356SerfsTer6
ENST00000699602.1:c.1066_1071delinsA ENSP00000514471.1:p.Trp356SerfsTer6
ENST00000699604.1:c.*890_*895delinsA ENSP00000514472.1:n.*890_*895delinsA
ENST00000699605.1:c.823_828delinsA ENSP00000514473.1:p.Trp275SerfsTer6
ENST00000003084.11:c.1066_1071delinsA MANE Select ENSP00000003084.6:p.Trp356SerfsTer6
ENST00000647978.1:c.*963_*968delinsA ENSP00000497658.1:n.*963_*968delinsA
ENST00000648260.1:c.1066_1071delinsA ENSP00000497957.1:p.Trp356SerfsTer6
ENST00000649406.1:c.1066_1071delinsA ENSP00000497965.1:p.Trp356SerfsTer6
ENST00000649781.1:c.1066_1071delinsA ENSP00000497203.1:p.Trp356SerfsTer6
ENST00000673785.1:c.823_828delinsA ENSP00000501235.1:p.Trp275SerfsTer6
ENST00000003084.10:c.1066_1071delinsA ENSP00000003084.6:p.Trp356SerfsTer6
ENST00000426809.5:c.976_981delinsA ENSP00000389119.1:p.Trp326SerfsTer6
NM_000492.3:c.1066_1071delinsA , LRG_663t1:c.1066_1071delinsA NP_000483.3:p.Trp356SerfsTer6
XM_011515751.1:c.1156_1161delinsA XP_011514053.1:p.Trp386SerfsTer6
XM_011515752.1:c.1156_1161delinsA XP_011514054.1:p.Trp386SerfsTer6
XM_011515753.1:c.823_828delinsA XP_011514055.1:p.Trp275SerfsTer6
XM_011515754.1:c.823_828delinsA XP_011514056.1:p.Trp275SerfsTer6
NM_000492.4:c.1066_1071delinsA MANE Select NP_000483.3:p.Trp356SerfsTer6