Canonical Allele Identifier: CA1737422077

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664801_117664802delinsTG , CM000669.2:g.117664801_117664802delinsTG	GRCh38
NC_000007.13:g.117304855_117304856delinsTG , CM000669.1:g.117304855_117304856delinsTG	GRCh37
NC_000007.12:g.117092091_117092092delinsTG	NCBI36
NG_016465.4:g.204018_204019delinsTG , LRG_663:g.204018_204019delinsTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*286_*287delinsTG	ENSP00000497673.2:n.*286_*287delinsTG
ENST00000647978.2:c.*3791_*3792delinsTG	ENSP00000497658.1:n.*3791_*3792delinsTG
ENST00000649781.2:c.3894_3895delinsTG	ENSP00000497203.1:p.Ser1298=
ENST00000685018.2:c.*290_*291delinsTG	ENSP00000510194.2:n.*290_*291delinsTG
ENST00000687278.2:c.*730_*731delinsTG	ENSP00000509593.2:n.*730_*731delinsTG
ENST00000699585.1:c.*286_*287delinsTG	ENSP00000514456.1:n.*286_*287delinsTG
ENST00000699598.1:c.4077_4078delinsTG	ENSP00000514467.1:p.Ser1359=
ENST00000699599.1:c.*290_*291delinsTG	ENSP00000514468.1:n.*290_*291delinsTG
ENST00000699600.1:c.*738_*739delinsTG	ENSP00000514469.1:n.*738_*739delinsTG
ENST00000699601.1:c.*2452_*2453delinsTG	ENSP00000514470.1:n.*2452_*2453delinsTG
ENST00000699602.1:c.4071_4072delinsTG	ENSP00000514471.1:p.Ser1357=
ENST00000699604.1:c.*3901_*3902delinsTG	ENSP00000514472.1:n.*3901_*3902delinsTG
ENST00000699605.1:c.3651_3652delinsTG	ENSP00000514473.1:p.Ser1217=
ENST00000699606.1:n.2245_2246delinsTG
ENST00000685018.1:c.941_942delinsTG	ENSP00000510194.1:n.941_942delinsTG
ENST00000687278.1:c.1864_1865delinsTG	ENSP00000509593.1:n.1864_1865delinsTG
ENST00000689011.1:c.659_660delinsTG
ENST00000003084.11:c.4077_4078delinsTG MANE Select	ENSP00000003084.6:p.Ser1359=
ENST00000647720.1:c.1527_1528delinsTG
ENST00000649781.1:c.3894_3895delinsTG	ENSP00000497203.1:p.Ser1298=
ENST00000003084.10:c.4077_4078delinsTG	ENSP00000003084.6:p.Ser1359=
ENST00000426809.5:c.3987_3988delinsTG	ENSP00000389119.1:p.Ser1329=
ENST00000600166.1:c.203_204delinsTG
NM_000492.3:c.4077_4078delinsTG , LRG_663t1:c.4077_4078delinsTG	NP_000483.3:p.Ser1359=
XM_011515751.1:c.4167_4168delinsTG	XP_011514053.1:p.Ser1389=
XM_011515752.1:c.4167_4168delinsTG	XP_011514054.1:p.Ser1389=
XM_011515753.1:c.3834_3835delinsTG	XP_011514055.1:p.Ser1278=
XM_011515754.1:c.3834_3835delinsTG	XP_011514056.1:p.Ser1278=
NM_000492.4:c.4077_4078delinsTG MANE Select	NP_000483.3:p.Ser1359=