Canonical Allele Identifier: CA2684619361

Gene: CFTR

Linked Data

• gnomAD v4: 7-117592443-C-CTGT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592443_117592444insTGT , CM000669.2:g.117592443_117592444insTGT	GRCh38
NC_000007.13:g.117232497_117232498insTGT , CM000669.1:g.117232497_117232498insTGT	GRCh37
NC_000007.12:g.117019733_117019734insTGT	NCBI36
NG_016465.4:g.131660_131661insTGT , LRG_663:g.131660_131661insTGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2276_2277insTGT	ENSP00000497673.2:p.Pro759_Thr760insVal
ENST00000647978.2:c.*1990_*1991insTGT	ENSP00000497658.1:n.*1990_*1991insTGT
ENST00000649781.2:c.2093_2094insTGT	ENSP00000497203.1:p.Pro698_Thr699insVal
ENST00000685018.2:c.2276_2277insTGT	ENSP00000510194.2:p.Pro759_Thr760insVal
ENST00000687278.2:c.2276_2277insTGT	ENSP00000509593.2:p.Pro759_Thr760insVal
ENST00000699585.1:c.2276_2277insTGT	ENSP00000514456.1:p.Pro759_Thr760insVal
ENST00000699598.1:c.2276_2277insTGT	ENSP00000514467.1:p.Pro759_Thr760insVal
ENST00000699599.1:c.2276_2277insTGT	ENSP00000514468.1:p.Pro759_Thr760insVal
ENST00000699600.1:c.2276_2277insTGT	ENSP00000514469.1:p.Pro759_Thr760insVal
ENST00000699601.1:c.*576_*577insTGT	ENSP00000514470.1:n.*576_*577insTGT
ENST00000699602.1:c.2276_2277insTGT	ENSP00000514471.1:p.Pro759_Thr760insVal
ENST00000699604.1:c.*2100_*2101insTGT	ENSP00000514472.1:n.*2100_*2101insTGT
ENST00000699605.1:c.1850_1851insTGT	ENSP00000514473.1:p.Pro617_Thr618insVal
ENST00000003084.11:c.2276_2277insTGT MANE Select	ENSP00000003084.6:p.Pro759_Thr760insVal
ENST00000647978.1:c.*1990_*1991insTGT	ENSP00000497658.1:n.*1990_*1991insTGT
ENST00000648260.1:c.1402-10383_1402-10382insTGT	ENSP00000497957.1:n.1402-10383_1402-10382insTGT
ENST00000649406.1:c.2093_2094insTGT	ENSP00000497965.1:p.Pro698_Thr699insVal
ENST00000649781.1:c.2093_2094insTGT	ENSP00000497203.1:p.Pro698_Thr699insVal
ENST00000003084.10:c.2276_2277insTGT	ENSP00000003084.6:p.Pro759_Thr760insVal
ENST00000426809.5:c.2186_2187insTGT	ENSP00000389119.1:p.Pro729_Thr730insVal
NM_000492.3:c.2276_2277insTGT , LRG_663t1:c.2276_2277insTGT	NP_000483.3:p.Pro759_Thr760insVal
XM_011515751.1:c.2366_2367insTGT	XP_011514053.1:p.Pro789_Thr790insVal
XM_011515752.1:c.2366_2367insTGT	XP_011514054.1:p.Pro789_Thr790insVal
XM_011515753.1:c.2033_2034insTGT	XP_011514055.1:p.Pro678_Thr679insVal
XM_011515754.1:c.2033_2034insTGT	XP_011514056.1:p.Pro678_Thr679insVal
NM_000492.4:c.2276_2277insTGT MANE Select	NP_000483.3:p.Pro759_Thr760insVal