Canonical Allele Identifier: CA1737394363

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592146_117592147delinsCA , CM000669.2:g.117592146_117592147delinsCA	GRCh38
NC_000007.13:g.117232200_117232201delinsCA , CM000669.1:g.117232200_117232201delinsCA	GRCh37
NC_000007.12:g.117019436_117019437delinsCA	NCBI36
NG_016465.4:g.131363_131364delinsCA , LRG_663:g.131363_131364delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1979_1980delinsCA	ENSP00000497673.2:p.Ser660=
ENST00000647978.2:c.*1693_*1694delinsCA	ENSP00000497658.1:n.*1693_*1694delinsCA
ENST00000649781.2:c.1796_1797delinsCA	ENSP00000497203.1:p.Ser599=
ENST00000685018.2:c.1979_1980delinsCA	ENSP00000510194.2:p.Ser660=
ENST00000687278.2:c.1979_1980delinsCA	ENSP00000509593.2:p.Ser660=
ENST00000699585.1:c.1979_1980delinsCA	ENSP00000514456.1:p.Ser660=
ENST00000699598.1:c.1979_1980delinsCA	ENSP00000514467.1:p.Ser660=
ENST00000699599.1:c.1979_1980delinsCA	ENSP00000514468.1:p.Ser660=
ENST00000699600.1:c.1979_1980delinsCA	ENSP00000514469.1:p.Ser660=
ENST00000699601.1:c.*279_*280delinsCA	ENSP00000514470.1:n.*279_*280delinsCA
ENST00000699602.1:c.1979_1980delinsCA	ENSP00000514471.1:p.Ser660=
ENST00000699604.1:c.*1803_*1804delinsCA	ENSP00000514472.1:n.*1803_*1804delinsCA
ENST00000699605.1:c.1553_1554delinsCA	ENSP00000514473.1:p.Ser518=
ENST00000003084.11:c.1979_1980delinsCA MANE Select	ENSP00000003084.6:p.Ser660=
ENST00000647978.1:c.*1693_*1694delinsCA	ENSP00000497658.1:n.*1693_*1694delinsCA
ENST00000648260.1:c.1402-10680_1402-10679delinsCA	ENSP00000497957.1:n.1402-10680_1402-10679delinsCA
ENST00000649406.1:c.1796_1797delinsCA	ENSP00000497965.1:p.Ser599=
ENST00000649781.1:c.1796_1797delinsCA	ENSP00000497203.1:p.Ser599=
ENST00000003084.10:c.1979_1980delinsCA	ENSP00000003084.6:p.Ser660=
ENST00000426809.5:c.1889_1890delinsCA	ENSP00000389119.1:p.Ser630=
NM_000492.3:c.1979_1980delinsCA , LRG_663t1:c.1979_1980delinsCA	NP_000483.3:p.Ser660=
XM_011515751.1:c.2069_2070delinsCA	XP_011514053.1:p.Ser690=
XM_011515752.1:c.2069_2070delinsCA	XP_011514054.1:p.Ser690=
XM_011515753.1:c.1736_1737delinsCA	XP_011514055.1:p.Ser579=
XM_011515754.1:c.1736_1737delinsCA	XP_011514056.1:p.Ser579=
NM_000492.4:c.1979_1980delinsCA MANE Select	NP_000483.3:p.Ser660=