Canonical Allele Identifier: CA1737394609

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592217_117592219delinsAAA , CM000669.2:g.117592217_117592219delinsAAA	GRCh38
NC_000007.13:g.117232271_117232273delinsAAA , CM000669.1:g.117232271_117232273delinsAAA	GRCh37
NC_000007.12:g.117019507_117019509delinsAAA	NCBI36
NG_016465.4:g.131434_131436delinsAAA , LRG_663:g.131434_131436delinsAAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2050_2052delinsAAA	ENSP00000497673.2:p.Lys684=
ENST00000647978.2:c.*1764_*1766delinsAAA	ENSP00000497658.1:n.*1764_*1766delinsAAA
ENST00000649781.2:c.1867_1869delinsAAA	ENSP00000497203.1:p.Lys623=
ENST00000685018.2:c.2050_2052delinsAAA	ENSP00000510194.2:p.Lys684=
ENST00000687278.2:c.2050_2052delinsAAA	ENSP00000509593.2:p.Lys684=
ENST00000699585.1:c.2050_2052delinsAAA	ENSP00000514456.1:p.Lys684=
ENST00000699598.1:c.2050_2052delinsAAA	ENSP00000514467.1:p.Lys684=
ENST00000699599.1:c.2050_2052delinsAAA	ENSP00000514468.1:p.Lys684=
ENST00000699600.1:c.2050_2052delinsAAA	ENSP00000514469.1:p.Lys684=
ENST00000699601.1:c.*350_*352delinsAAA	ENSP00000514470.1:n.*350_*352delinsAAA
ENST00000699602.1:c.2050_2052delinsAAA	ENSP00000514471.1:p.Lys684=
ENST00000699604.1:c.*1874_*1876delinsAAA	ENSP00000514472.1:n.*1874_*1876delinsAAA
ENST00000699605.1:c.1624_1626delinsAAA	ENSP00000514473.1:p.Lys542=
ENST00000003084.11:c.2050_2052delinsAAA MANE Select	ENSP00000003084.6:p.Lys684=
ENST00000647978.1:c.*1764_*1766delinsAAA	ENSP00000497658.1:n.*1764_*1766delinsAAA
ENST00000648260.1:c.1402-10609_1402-10607delinsAAA	ENSP00000497957.1:n.1402-10609_1402-10607...
ENST00000649406.1:c.1867_1869delinsAAA	ENSP00000497965.1:p.Lys623=
ENST00000649781.1:c.1867_1869delinsAAA	ENSP00000497203.1:p.Lys623=
ENST00000003084.10:c.2050_2052delinsAAA	ENSP00000003084.6:p.Lys684=
ENST00000426809.5:c.1960_1962delinsAAA	ENSP00000389119.1:p.Lys654=
NM_000492.3:c.2050_2052delinsAAA , LRG_663t1:c.2050_2052delinsAAA	NP_000483.3:p.Lys684=
XM_011515751.1:c.2140_2142delinsAAA	XP_011514053.1:p.Lys714=
XM_011515752.1:c.2140_2142delinsAAA	XP_011514054.1:p.Lys714=
XM_011515753.1:c.1807_1809delinsAAA	XP_011514055.1:p.Lys603=
XM_011515754.1:c.1807_1809delinsAAA	XP_011514056.1:p.Lys603=
NM_000492.4:c.2050_2052delinsAAA MANE Select	NP_000483.3:p.Lys684=