Canonical Allele Identifier: CA1737394607
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117592217_117592220delinsAAAC , CM000669.2:g.117592217_117592220delinsAAAC GRCh38
NC_000007.13:g.117232271_117232274delinsAAAC , CM000669.1:g.117232271_117232274delinsAAAC GRCh37
NC_000007.12:g.117019507_117019510delinsAAAC NCBI36
NG_016465.4:g.131434_131437delinsAAAC , LRG_663:g.131434_131437delinsAAAC

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.2050_2053delinsAAAC ENSP00000497673.2:p.Lys684=
ENST00000647978.2:c.*1764_*1767delinsAAAC ENSP00000497658.1:n.*1764_*1767delinsAAAC...
ENST00000649781.2:c.1867_1870delinsAAAC ENSP00000497203.1:p.Lys623=
ENST00000685018.2:c.2050_2053delinsAAAC ENSP00000510194.2:p.Lys684=
ENST00000687278.2:c.2050_2053delinsAAAC ENSP00000509593.2:p.Lys684=
ENST00000699585.1:c.2050_2053delinsAAAC ENSP00000514456.1:p.Lys684=
ENST00000699598.1:c.2050_2053delinsAAAC ENSP00000514467.1:p.Lys684=
ENST00000699599.1:c.2050_2053delinsAAAC ENSP00000514468.1:p.Lys684=
ENST00000699600.1:c.2050_2053delinsAAAC ENSP00000514469.1:p.Lys684=
ENST00000699601.1:c.*350_*353delinsAAAC ENSP00000514470.1:n.*350_*353delinsAAAC
ENST00000699602.1:c.2050_2053delinsAAAC ENSP00000514471.1:p.Lys684=
ENST00000699604.1:c.*1874_*1877delinsAAAC ENSP00000514472.1:n.*1874_*1877delinsAAAC...
ENST00000699605.1:c.1624_1627delinsAAAC ENSP00000514473.1:p.Lys542=
ENST00000003084.11:c.2050_2053delinsAAAC MANE Select ENSP00000003084.6:p.Lys684=
ENST00000647978.1:c.*1764_*1767delinsAAAC ENSP00000497658.1:n.*1764_*1767delinsAAAC...
ENST00000648260.1:c.1402-10609_1402-10606delinsAAAC ENSP00000497957.1:n.1402-10609_1402-10606...
ENST00000649406.1:c.1867_1870delinsAAAC ENSP00000497965.1:p.Lys623=
ENST00000649781.1:c.1867_1870delinsAAAC ENSP00000497203.1:p.Lys623=
ENST00000003084.10:c.2050_2053delinsAAAC ENSP00000003084.6:p.Lys684=
ENST00000426809.5:c.1960_1963delinsAAAC ENSP00000389119.1:p.Lys654=
NM_000492.3:c.2050_2053delinsAAAC , LRG_663t1:c.2050_2053delinsAAAC NP_000483.3:p.Lys684=
XM_011515751.1:c.2140_2143delinsAAAC XP_011514053.1:p.Lys714=
XM_011515752.1:c.2140_2143delinsAAAC XP_011514054.1:p.Lys714=
XM_011515753.1:c.1807_1810delinsAAAC XP_011514055.1:p.Lys603=
XM_011515754.1:c.1807_1810delinsAAAC XP_011514056.1:p.Lys603=
NM_000492.4:c.2050_2053delinsAAAC MANE Select NP_000483.3:p.Lys684=