Canonical Allele Identifier: CA2695208507

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592224_117592225delinsA , CM000669.2:g.117592224_117592225delinsA	GRCh38
NC_000007.13:g.117232278_117232279delinsA , CM000669.1:g.117232278_117232279delinsA	GRCh37
NC_000007.12:g.117019514_117019515delinsA	NCBI36
NG_016465.4:g.131441_131442delinsA , LRG_663:g.131441_131442delinsA

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2057_2058delinsA	ENSP00000497673.2:p.Ser686TyrfsTer?
ENST00000647978.2:c.*1771_*1772delinsA	ENSP00000497658.1:n.*1771_*1772delinsA
ENST00000649781.2:c.1874_1875delinsA	ENSP00000497203.1:p.Ser625TyrfsTer?
ENST00000685018.2:c.2057_2058delinsA	ENSP00000510194.2:p.Ser686TyrfsTer?
ENST00000687278.2:c.2057_2058delinsA	ENSP00000509593.2:p.Ser686TyrfsTer?
ENST00000699585.1:c.2057_2058delinsA	ENSP00000514456.1:p.Ser686TyrfsTer?
ENST00000699598.1:c.2057_2058delinsA	ENSP00000514467.1:p.Ser686TyrfsTer?
ENST00000699599.1:c.2057_2058delinsA	ENSP00000514468.1:p.Ser686TyrfsTer?
ENST00000699600.1:c.2057_2058delinsA	ENSP00000514469.1:p.Ser686TyrfsTer?
ENST00000699601.1:c.*357_*358delinsA	ENSP00000514470.1:n.*357_*358delinsA
ENST00000699602.1:c.2057_2058delinsA	ENSP00000514471.1:p.Ser686TyrfsTer?
ENST00000699604.1:c.*1881_*1882delinsA	ENSP00000514472.1:n.*1881_*1882delinsA
ENST00000699605.1:c.1631_1632delinsA	ENSP00000514473.1:p.Ser544TyrfsTer?
ENST00000003084.11:c.2057_2058delinsA MANE Select	ENSP00000003084.6:p.Ser686TyrfsTer?
ENST00000647978.1:c.*1771_*1772delinsA	ENSP00000497658.1:n.*1771_*1772delinsA
ENST00000648260.1:c.1402-10602_1402-10601delinsA	ENSP00000497957.1:n.1402-10602_1402-10601...
ENST00000649406.1:c.1874_1875delinsA	ENSP00000497965.1:p.Ser625TyrfsTer?
ENST00000649781.1:c.1874_1875delinsA	ENSP00000497203.1:p.Ser625TyrfsTer?
ENST00000003084.10:c.2057_2058delinsA	ENSP00000003084.6:p.Ser686TyrfsTer?
ENST00000426809.5:c.1967_1968delinsA	ENSP00000389119.1:p.Ser656TyrfsTer?
NM_000492.3:c.2057_2058delinsA , LRG_663t1:c.2057_2058delinsA	NP_000483.3:p.Ser686TyrfsTer?
XM_011515751.1:c.2147_2148delinsA	XP_011514053.1:p.Ser716TyrfsTer?
XM_011515752.1:c.2147_2148delinsA	XP_011514054.1:p.Ser716TyrfsTer?
XM_011515753.1:c.1814_1815delinsA	XP_011514055.1:p.Ser605TyrfsTer?
XM_011515754.1:c.1814_1815delinsA	XP_011514056.1:p.Ser605TyrfsTer?
NM_000492.4:c.2057_2058delinsA MANE Select	NP_000483.3:p.Ser686TyrfsTer?