Canonical Allele Identifier: CA2684588061

Gene: CFTR

Linked Data

• gnomAD v4: 7-117606667-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117606669del , CM000669.2:g.117606669del	GRCh38
NC_000007.13:g.117246723del , CM000669.1:g.117246723del	GRCh37
NC_000007.12:g.117033959del	NCBI36
NG_016465.4:g.145886del , LRG_663:g.145886del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2909-5del	ENSP00000497673.2:n.2909-5del
ENST00000647978.2:c.*2623-5del	ENSP00000497658.1:n.*2623-5del
ENST00000649781.2:c.2726-5del	ENSP00000497203.1:n.2726-5del
ENST00000685018.2:c.2909-5del	ENSP00000510194.2:n.2909-5del
ENST00000687278.2:c.2909-5del	ENSP00000509593.2:n.2909-5del
ENST00000699585.1:c.2909-5del	ENSP00000514456.1:n.2909-5del
ENST00000699598.1:c.2909-5del	ENSP00000514467.1:n.2909-5del
ENST00000699599.1:c.2909-5del	ENSP00000514468.1:n.2909-5del
ENST00000699600.1:c.2909-5del	ENSP00000514469.1:n.2909-5del
ENST00000699601.1:c.*1209-5del	ENSP00000514470.1:n.*1209-5del
ENST00000699602.1:c.2909-5del	ENSP00000514471.1:n.2909-5del
ENST00000699604.1:c.*2733-5del	ENSP00000514472.1:n.*2733-5del
ENST00000699605.1:c.2483-5del	ENSP00000514473.1:n.2483-5del
ENST00000687278.1:c.500-5del	ENSP00000509593.1:n.500-5del
ENST00000003084.11:c.2909-5del MANE Select	ENSP00000003084.6:n.2909-5del
ENST00000647720.1:c.559-5del
ENST00000648260.1:c.1691-5del	ENSP00000497957.1:n.1691-5del
ENST00000649406.1:c.2726-5del	ENSP00000497965.1:n.2726-5del
ENST00000649781.1:c.2726-5del	ENSP00000497203.1:n.2726-5del
ENST00000003084.10:c.2909-5del	ENSP00000003084.6:n.2909-5del
ENST00000426809.5:c.2819-5del	ENSP00000389119.1:n.2819-5del
NM_000492.3:c.2909-5del , LRG_663t1:c.2909-5del	NP_000483.3:n.2909-5del
XM_011515751.1:c.2999-5del	XP_011514053.1:n.2999-5del
XM_011515752.1:c.2999-5del	XP_011514054.1:n.2999-5del
XM_011515753.1:c.2666-5del	XP_011514055.1:n.2666-5del
XM_011515754.1:c.2666-5del	XP_011514056.1:n.2666-5del
NM_000492.4:c.2909-5del MANE Select	NP_000483.3:n.2909-5del