Canonical Allele Identifier: CA1737421951

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664768_117664769delinsTG , CM000669.2:g.117664768_117664769delinsTG	GRCh38
NC_000007.13:g.117304822_117304823delinsTG , CM000669.1:g.117304822_117304823delinsTG	GRCh37
NC_000007.12:g.117092058_117092059delinsTG	NCBI36
NG_016465.4:g.203985_203986delinsTG , LRG_663:g.203985_203986delinsTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*253_*254delinsTG	ENSP00000497673.2:n.*253_*254delinsTG
ENST00000647978.2:c.*3758_*3759delinsTG	ENSP00000497658.1:n.*3758_*3759delinsTG
ENST00000649781.2:c.3861_3862delinsTG	ENSP00000497203.1:p.His1287=
ENST00000685018.2:c.*257_*258delinsTG	ENSP00000510194.2:n.*257_*258delinsTG
ENST00000687278.2:c.*697_*698delinsTG	ENSP00000509593.2:n.*697_*698delinsTG
ENST00000699585.1:c.*253_*254delinsTG	ENSP00000514456.1:n.*253_*254delinsTG
ENST00000699598.1:c.4044_4045delinsTG	ENSP00000514467.1:p.His1348=
ENST00000699599.1:c.*257_*258delinsTG	ENSP00000514468.1:n.*257_*258delinsTG
ENST00000699600.1:c.*705_*706delinsTG	ENSP00000514469.1:n.*705_*706delinsTG
ENST00000699601.1:c.*2419_*2420delinsTG	ENSP00000514470.1:n.*2419_*2420delinsTG
ENST00000699602.1:c.4038_4039delinsTG	ENSP00000514471.1:p.His1346=
ENST00000699604.1:c.*3868_*3869delinsTG	ENSP00000514472.1:n.*3868_*3869delinsTG
ENST00000699605.1:c.3618_3619delinsTG	ENSP00000514473.1:p.His1206=
ENST00000699606.1:n.2212_2213delinsTG
ENST00000685018.1:c.908_909delinsTG	ENSP00000510194.1:n.908_909delinsTG
ENST00000687278.1:c.1831_1832delinsTG	ENSP00000509593.1:n.1831_1832delinsTG
ENST00000689011.1:c.626_627delinsTG
ENST00000003084.11:c.4044_4045delinsTG MANE Select	ENSP00000003084.6:p.His1348=
ENST00000647720.1:c.1494_1495delinsTG
ENST00000649781.1:c.3861_3862delinsTG	ENSP00000497203.1:p.His1287=
ENST00000003084.10:c.4044_4045delinsTG	ENSP00000003084.6:p.His1348=
ENST00000426809.5:c.3954_3955delinsTG	ENSP00000389119.1:p.His1318=
ENST00000600166.1:c.170_171delinsTG
NM_000492.3:c.4044_4045delinsTG , LRG_663t1:c.4044_4045delinsTG	NP_000483.3:p.His1348=
XM_011515751.1:c.4134_4135delinsTG	XP_011514053.1:p.His1378=
XM_011515752.1:c.4134_4135delinsTG	XP_011514054.1:p.His1378=
XM_011515753.1:c.3801_3802delinsTG	XP_011514055.1:p.His1267=
XM_011515754.1:c.3801_3802delinsTG	XP_011514056.1:p.His1267=
NM_000492.4:c.4044_4045delinsTG MANE Select	NP_000483.3:p.His1348=