Canonical Allele Identifier: CA1737422071

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664800_117664802delinsCTG , CM000669.2:g.117664800_117664802delinsCTG	GRCh38
NC_000007.13:g.117304854_117304856delinsCTG , CM000669.1:g.117304854_117304856delinsCTG	GRCh37
NC_000007.12:g.117092090_117092092delinsCTG	NCBI36
NG_016465.4:g.204017_204019delinsCTG , LRG_663:g.204017_204019delinsCTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*285_*287delinsCTG	ENSP00000497673.2:n.*285_*287delinsCTG
ENST00000647978.2:c.*3790_*3792delinsCTG	ENSP00000497658.1:n.*3790_*3792delinsCTG
ENST00000649781.2:c.3893_3895delinsCTG	ENSP00000497203.1:p.Ser1298=
ENST00000685018.2:c.*289_*291delinsCTG	ENSP00000510194.2:n.*289_*291delinsCTG
ENST00000687278.2:c.*729_*731delinsCTG	ENSP00000509593.2:n.*729_*731delinsCTG
ENST00000699585.1:c.*285_*287delinsCTG	ENSP00000514456.1:n.*285_*287delinsCTG
ENST00000699598.1:c.4076_4078delinsCTG	ENSP00000514467.1:p.Ser1359=
ENST00000699599.1:c.*289_*291delinsCTG	ENSP00000514468.1:n.*289_*291delinsCTG
ENST00000699600.1:c.*737_*739delinsCTG	ENSP00000514469.1:n.*737_*739delinsCTG
ENST00000699601.1:c.*2451_*2453delinsCTG	ENSP00000514470.1:n.*2451_*2453delinsCTG
ENST00000699602.1:c.4070_4072delinsCTG	ENSP00000514471.1:p.Ser1357=
ENST00000699604.1:c.*3900_*3902delinsCTG	ENSP00000514472.1:n.*3900_*3902delinsCTG
ENST00000699605.1:c.3650_3652delinsCTG	ENSP00000514473.1:p.Ser1217=
ENST00000699606.1:n.2244_2246delinsCTG
ENST00000685018.1:c.940_942delinsCTG	ENSP00000510194.1:n.940_942delinsCTG
ENST00000687278.1:c.1863_1865delinsCTG	ENSP00000509593.1:n.1863_1865delinsCTG
ENST00000689011.1:c.658_660delinsCTG
ENST00000003084.11:c.4076_4078delinsCTG MANE Select	ENSP00000003084.6:p.Ser1359=
ENST00000647720.1:c.1526_1528delinsCTG
ENST00000649781.1:c.3893_3895delinsCTG	ENSP00000497203.1:p.Ser1298=
ENST00000003084.10:c.4076_4078delinsCTG	ENSP00000003084.6:p.Ser1359=
ENST00000426809.5:c.3986_3988delinsCTG	ENSP00000389119.1:p.Ser1329=
ENST00000600166.1:c.202_204delinsCTG
NM_000492.3:c.4076_4078delinsCTG , LRG_663t1:c.4076_4078delinsCTG	NP_000483.3:p.Ser1359=
XM_011515751.1:c.4166_4168delinsCTG	XP_011514053.1:p.Ser1389=
XM_011515752.1:c.4166_4168delinsCTG	XP_011514054.1:p.Ser1389=
XM_011515753.1:c.3833_3835delinsCTG	XP_011514055.1:p.Ser1278=
XM_011515754.1:c.3833_3835delinsCTG	XP_011514056.1:p.Ser1278=
NM_000492.4:c.4076_4078delinsCTG MANE Select	NP_000483.3:p.Ser1359=