Canonical Allele Identifier: CA923726134

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592218_117592219insG , CM000669.2:g.117592218_117592219insG	GRCh38
NC_000007.13:g.117232272_117232273insG , CM000669.1:g.117232272_117232273insG	GRCh37
NC_000007.12:g.117019508_117019509insG	NCBI36
NG_016465.4:g.131435_131436insG , LRG_663:g.131435_131436insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2051_2052insG	ENSP00000497673.2:p.Gln685ThrfsTer4
ENST00000647978.2:c.*1765_*1766insG	ENSP00000497658.1:n.*1765_*1766insG
ENST00000649781.2:c.1868_1869insG	ENSP00000497203.1:p.Gln624ThrfsTer4
ENST00000685018.2:c.2051_2052insG	ENSP00000510194.2:p.Gln685ThrfsTer4
ENST00000687278.2:c.2051_2052insG	ENSP00000509593.2:p.Gln685ThrfsTer4
ENST00000699585.1:c.2051_2052insG	ENSP00000514456.1:p.Gln685ThrfsTer4
ENST00000699598.1:c.2051_2052insG	ENSP00000514467.1:p.Gln685ThrfsTer4
ENST00000699599.1:c.2051_2052insG	ENSP00000514468.1:p.Gln685ThrfsTer4
ENST00000699600.1:c.2051_2052insG	ENSP00000514469.1:p.Gln685ThrfsTer4
ENST00000699601.1:c.*351_*352insG	ENSP00000514470.1:n.*351_*352insG
ENST00000699602.1:c.2051_2052insG	ENSP00000514471.1:p.Gln685ThrfsTer4
ENST00000699604.1:c.*1875_*1876insG	ENSP00000514472.1:n.*1875_*1876insG
ENST00000699605.1:c.1625_1626insG	ENSP00000514473.1:p.Gln543ThrfsTer4
ENST00000003084.11:c.2051_2052insG MANE Select	ENSP00000003084.6:p.Gln685ThrfsTer4
ENST00000647978.1:c.*1765_*1766insG	ENSP00000497658.1:n.*1765_*1766insG
ENST00000648260.1:c.1402-10608_1402-10607insG	ENSP00000497957.1:n.1402-10608_1402-10607insG
ENST00000649406.1:c.1868_1869insG	ENSP00000497965.1:p.Gln624ThrfsTer4
ENST00000649781.1:c.1868_1869insG	ENSP00000497203.1:p.Gln624ThrfsTer4
ENST00000003084.10:c.2051_2052insG	ENSP00000003084.6:p.Gln685ThrfsTer4
ENST00000426809.5:c.1961_1962insG	ENSP00000389119.1:p.Gln655ThrfsTer4
NM_000492.3:c.2051_2052insG , LRG_663t1:c.2051_2052insG	NP_000483.3:p.Gln685ThrfsTer4
XM_011515751.1:c.2141_2142insG	XP_011514053.1:p.Gln715ThrfsTer4
XM_011515752.1:c.2141_2142insG	XP_011514054.1:p.Gln715ThrfsTer4
XM_011515753.1:c.1808_1809insG	XP_011514055.1:p.Gln604ThrfsTer4
XM_011515754.1:c.1808_1809insG	XP_011514056.1:p.Gln604ThrfsTer4
NM_000492.4:c.2051_2052insG MANE Select	NP_000483.3:p.Gln685ThrfsTer4