Canonical Allele Identifier: CA1737394575
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117592212_117592214delinsCAA , CM000669.2:g.117592212_117592214delinsCAA GRCh38
NC_000007.13:g.117232266_117232268delinsCAA , CM000669.1:g.117232266_117232268delinsCAA GRCh37
NC_000007.12:g.117019502_117019504delinsCAA NCBI36
NG_016465.4:g.131429_131431delinsCAA , LRG_663:g.131429_131431delinsCAA

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.2045_2047delinsCAA ENSP00000497673.2:p.Thr682=
ENST00000647978.2:c.*1759_*1761delinsCAA ENSP00000497658.1:n.*1759_*1761delinsCAA
ENST00000649781.2:c.1862_1864delinsCAA ENSP00000497203.1:p.Thr621=
ENST00000685018.2:c.2045_2047delinsCAA ENSP00000510194.2:p.Thr682=
ENST00000687278.2:c.2045_2047delinsCAA ENSP00000509593.2:p.Thr682=
ENST00000699585.1:c.2045_2047delinsCAA ENSP00000514456.1:p.Thr682=
ENST00000699598.1:c.2045_2047delinsCAA ENSP00000514467.1:p.Thr682=
ENST00000699599.1:c.2045_2047delinsCAA ENSP00000514468.1:p.Thr682=
ENST00000699600.1:c.2045_2047delinsCAA ENSP00000514469.1:p.Thr682=
ENST00000699601.1:c.*345_*347delinsCAA ENSP00000514470.1:n.*345_*347delinsCAA
ENST00000699602.1:c.2045_2047delinsCAA ENSP00000514471.1:p.Thr682=
ENST00000699604.1:c.*1869_*1871delinsCAA ENSP00000514472.1:n.*1869_*1871delinsCAA
ENST00000699605.1:c.1619_1621delinsCAA ENSP00000514473.1:p.Thr540=
ENST00000003084.11:c.2045_2047delinsCAA MANE Select ENSP00000003084.6:p.Thr682=
ENST00000647978.1:c.*1759_*1761delinsCAA ENSP00000497658.1:n.*1759_*1761delinsCAA
ENST00000648260.1:c.1402-10614_1402-10612delinsCAA ENSP00000497957.1:n.1402-10614_1402-10612...
ENST00000649406.1:c.1862_1864delinsCAA ENSP00000497965.1:p.Thr621=
ENST00000649781.1:c.1862_1864delinsCAA ENSP00000497203.1:p.Thr621=
ENST00000003084.10:c.2045_2047delinsCAA ENSP00000003084.6:p.Thr682=
ENST00000426809.5:c.1955_1957delinsCAA ENSP00000389119.1:p.Thr652=
NM_000492.3:c.2045_2047delinsCAA , LRG_663t1:c.2045_2047delinsCAA NP_000483.3:p.Thr682=
XM_011515751.1:c.2135_2137delinsCAA XP_011514053.1:p.Thr712=
XM_011515752.1:c.2135_2137delinsCAA XP_011514054.1:p.Thr712=
XM_011515753.1:c.1802_1804delinsCAA XP_011514055.1:p.Thr601=
XM_011515754.1:c.1802_1804delinsCAA XP_011514056.1:p.Thr601=
NM_000492.4:c.2045_2047delinsCAA MANE Select NP_000483.3:p.Thr682=