Canonical Allele Identifier: CA2695208511

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592324_117592333delinsGTAAG , CM000669.2:g.117592324_117592333delinsGTAAG	GRCh38
NC_000007.13:g.117232378_117232387delinsGTAAG , CM000669.1:g.117232378_117232387delinsGTAAG	GRCh37
NC_000007.12:g.117019614_117019623delinsGTAAG	NCBI36
NG_016465.4:g.131541_131550delinsGTAAG , LRG_663:g.131541_131550delinsGTAAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2157_2166delinsGTAAG	ENSP00000497673.2:p.Gln720Ter
ENST00000647978.2:c.*1871_*1880delinsGTAAG	ENSP00000497658.1:n.*1871_*1880delinsGTAAG
ENST00000649781.2:c.1974_1983delinsGTAAG	ENSP00000497203.1:p.Gln659Ter
ENST00000685018.2:c.2157_2166delinsGTAAG	ENSP00000510194.2:p.Gln720Ter
ENST00000687278.2:c.2157_2166delinsGTAAG	ENSP00000509593.2:p.Gln720Ter
ENST00000699585.1:c.2157_2166delinsGTAAG	ENSP00000514456.1:p.Gln720Ter
ENST00000699598.1:c.2157_2166delinsGTAAG	ENSP00000514467.1:p.Gln720Ter
ENST00000699599.1:c.2157_2166delinsGTAAG	ENSP00000514468.1:p.Gln720Ter
ENST00000699600.1:c.2157_2166delinsGTAAG	ENSP00000514469.1:p.Gln720Ter
ENST00000699601.1:c.*457_*466delinsGTAAG	ENSP00000514470.1:n.*457_*466delinsGTAAG
ENST00000699602.1:c.2157_2166delinsGTAAG	ENSP00000514471.1:p.Gln720Ter
ENST00000699604.1:c.*1981_*1990delinsGTAAG	ENSP00000514472.1:n.*1981_*1990delinsGTAAG
ENST00000699605.1:c.1731_1740delinsGTAAG	ENSP00000514473.1:p.Gln578Ter
ENST00000003084.11:c.2157_2166delinsGTAAG MANE Select	ENSP00000003084.6:p.Gln720Ter
ENST00000647978.1:c.*1871_*1880delinsGTAAG	ENSP00000497658.1:n.*1871_*1880delinsGTAAG
ENST00000648260.1:c.1402-10502_1402-10493delinsGTAAG	ENSP00000497957.1:n.1402-10502_1402-10493delinsGTAAG
ENST00000649406.1:c.1974_1983delinsGTAAG	ENSP00000497965.1:p.Gln659Ter
ENST00000649781.1:c.1974_1983delinsGTAAG	ENSP00000497203.1:p.Gln659Ter
ENST00000003084.10:c.2157_2166delinsGTAAG	ENSP00000003084.6:p.Gln720Ter
ENST00000426809.5:c.2067_2076delinsGTAAG	ENSP00000389119.1:p.Gln690Ter
NM_000492.3:c.2157_2166delinsGTAAG , LRG_663t1:c.2157_2166delinsGTAAG	NP_000483.3:p.Gln720Ter
XM_011515751.1:c.2247_2256delinsGTAAG	XP_011514053.1:p.Gln750Ter
XM_011515752.1:c.2247_2256delinsGTAAG	XP_011514054.1:p.Gln750Ter
XM_011515753.1:c.1914_1923delinsGTAAG	XP_011514055.1:p.Gln639Ter
XM_011515754.1:c.1914_1923delinsGTAAG	XP_011514056.1:p.Gln639Ter
NM_000492.4:c.2157_2166delinsGTAAG MANE Select	NP_000483.3:p.Gln720Ter