Canonical Allele Identifier: CA1737384790

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117610549_117610550delinsGT , CM000669.2:g.117610549_117610550delinsGT	GRCh38
NC_000007.13:g.117250603_117250604delinsGT , CM000669.1:g.117250603_117250604delinsGT	GRCh37
NC_000007.12:g.117037839_117037840delinsGT	NCBI36
NG_016465.4:g.149766_149767delinsGT , LRG_663:g.149766_149767delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3019_3020delinsGT	ENSP00000497673.2:p.Val1007=
ENST00000647978.2:c.*2733_*2734delinsGT	ENSP00000497658.1:n.*2733_*2734delinsGT
ENST00000649781.2:c.2836_2837delinsGT	ENSP00000497203.1:p.Val946=
ENST00000685018.2:c.3019_3020delinsGT	ENSP00000510194.2:p.Val1007=
ENST00000687278.2:c.3019_3020delinsGT	ENSP00000509593.2:p.Val1007=
ENST00000699585.1:c.3019_3020delinsGT	ENSP00000514456.1:p.Val1007=
ENST00000699598.1:c.3019_3020delinsGT	ENSP00000514467.1:p.Val1007=
ENST00000699599.1:c.3019_3020delinsGT	ENSP00000514468.1:p.Val1007=
ENST00000699600.1:c.3019_3020delinsGT	ENSP00000514469.1:p.Val1007=
ENST00000699601.1:c.*1319_*1320delinsGT	ENSP00000514470.1:n.*1319_*1320delinsGT
ENST00000699602.1:c.3019_3020delinsGT	ENSP00000514471.1:p.Val1007=
ENST00000699604.1:c.*2843_*2844delinsGT	ENSP00000514472.1:n.*2843_*2844delinsGT
ENST00000699605.1:c.2593_2594delinsGT	ENSP00000514473.1:p.Val865=
ENST00000687278.1:c.610_611delinsGT	ENSP00000509593.1:p.Val204=
ENST00000003084.11:c.3019_3020delinsGT MANE Select	ENSP00000003084.6:p.Val1007=
ENST00000647720.1:c.669_670delinsGT
ENST00000648260.1:c.1801_1802delinsGT	ENSP00000497957.1:p.Val601=
ENST00000649406.1:c.2836_2837delinsGT	ENSP00000497965.1:p.Val946=
ENST00000649781.1:c.2836_2837delinsGT	ENSP00000497203.1:p.Val946=
ENST00000003084.10:c.3019_3020delinsGT	ENSP00000003084.6:p.Val1007=
ENST00000426809.5:c.2929_2930delinsGT	ENSP00000389119.1:p.Val977=
NM_000492.3:c.3019_3020delinsGT , LRG_663t1:c.3019_3020delinsGT	NP_000483.3:p.Val1007=
XM_011515751.1:c.3109_3110delinsGT	XP_011514053.1:p.Val1037=
XM_011515752.1:c.3109_3110delinsGT	XP_011514054.1:p.Val1037=
XM_011515753.1:c.2776_2777delinsGT	XP_011514055.1:p.Val926=
XM_011515754.1:c.2776_2777delinsGT	XP_011514056.1:p.Val926=
NM_000492.4:c.3019_3020delinsGT MANE Select	NP_000483.3:p.Val1007=