Canonical Allele Identifier: CA2695208513

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592375_117592376insC , CM000669.2:g.117592375_117592376insC	GRCh38
NC_000007.13:g.117232429_117232430insC , CM000669.1:g.117232429_117232430insC	GRCh37
NC_000007.12:g.117019665_117019666insC	NCBI36
NG_016465.4:g.131592_131593insC , LRG_663:g.131592_131593insC

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2208_2209insC	ENSP00000497673.2:p.Ser737LeufsTer7
ENST00000647978.2:c.*1922_*1923insC	ENSP00000497658.1:n.*1922_*1923insC
ENST00000649781.2:c.2025_2026insC	ENSP00000497203.1:p.Ser676LeufsTer7
ENST00000685018.2:c.2208_2209insC	ENSP00000510194.2:p.Ser737LeufsTer7
ENST00000687278.2:c.2208_2209insC	ENSP00000509593.2:p.Ser737LeufsTer7
ENST00000699585.1:c.2208_2209insC	ENSP00000514456.1:p.Ser737LeufsTer7
ENST00000699598.1:c.2208_2209insC	ENSP00000514467.1:p.Ser737LeufsTer7
ENST00000699599.1:c.2208_2209insC	ENSP00000514468.1:p.Ser737LeufsTer7
ENST00000699600.1:c.2208_2209insC	ENSP00000514469.1:p.Ser737LeufsTer7
ENST00000699601.1:c.*508_*509insC	ENSP00000514470.1:n.*508_*509insC
ENST00000699602.1:c.2208_2209insC	ENSP00000514471.1:p.Ser737LeufsTer7
ENST00000699604.1:c.*2032_*2033insC	ENSP00000514472.1:n.*2032_*2033insC
ENST00000699605.1:c.1782_1783insC	ENSP00000514473.1:p.Ser595LeufsTer7
ENST00000003084.11:c.2208_2209insC MANE Select	ENSP00000003084.6:p.Ser737LeufsTer7
ENST00000647978.1:c.*1922_*1923insC	ENSP00000497658.1:n.*1922_*1923insC
ENST00000648260.1:c.1402-10451_1402-10450insC	ENSP00000497957.1:n.1402-10451_1402-10450insC
ENST00000649406.1:c.2025_2026insC	ENSP00000497965.1:p.Ser676LeufsTer7
ENST00000649781.1:c.2025_2026insC	ENSP00000497203.1:p.Ser676LeufsTer7
ENST00000003084.10:c.2208_2209insC	ENSP00000003084.6:p.Ser737LeufsTer7
ENST00000426809.5:c.2118_2119insC	ENSP00000389119.1:p.Ser707LeufsTer7
NM_000492.3:c.2208_2209insC , LRG_663t1:c.2208_2209insC	NP_000483.3:p.Ser737LeufsTer7
XM_011515751.1:c.2298_2299insC	XP_011514053.1:p.Ser767LeufsTer7
XM_011515752.1:c.2298_2299insC	XP_011514054.1:p.Ser767LeufsTer7
XM_011515753.1:c.1965_1966insC	XP_011514055.1:p.Ser656LeufsTer7
XM_011515754.1:c.1965_1966insC	XP_011514056.1:p.Ser656LeufsTer7
NM_000492.4:c.2208_2209insC MANE Select	NP_000483.3:p.Ser737LeufsTer7