Canonical Allele Identifier: CA2695208501

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117591962dup , CM000669.2:g.117591962dup	GRCh38
NC_000007.13:g.117232016dup , CM000669.1:g.117232016dup	GRCh37
NC_000007.12:g.117019252dup	NCBI36
NG_016465.4:g.131179dup , LRG_663:g.131179dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1795dup	ENSP00000497673.2:p.Thr599AsnfsTer2
ENST00000647978.2:c.*1509dup	ENSP00000497658.1:n.*1509dup
ENST00000649781.2:c.1612dup	ENSP00000497203.1:p.Thr538AsnfsTer2
ENST00000685018.2:c.1795dup	ENSP00000510194.2:p.Thr599AsnfsTer2
ENST00000687278.2:c.1795dup	ENSP00000509593.2:p.Thr599AsnfsTer2
ENST00000699585.1:c.1795dup	ENSP00000514456.1:p.Thr599AsnfsTer2
ENST00000699598.1:c.1795dup	ENSP00000514467.1:p.Thr599AsnfsTer2
ENST00000699599.1:c.1795dup	ENSP00000514468.1:p.Thr599AsnfsTer2
ENST00000699600.1:c.1795dup	ENSP00000514469.1:p.Thr599AsnfsTer2
ENST00000699601.1:c.*95dup	ENSP00000514470.1:n.*95dup
ENST00000699602.1:c.1795dup	ENSP00000514471.1:p.Thr599AsnfsTer2
ENST00000699604.1:c.*1619dup	ENSP00000514472.1:n.*1619dup
ENST00000699605.1:c.1369dup	ENSP00000514473.1:p.Thr457AsnfsTer2
ENST00000003084.11:c.1795dup MANE Select	ENSP00000003084.6:p.Thr599AsnfsTer2
ENST00000647978.1:c.*1509dup	ENSP00000497658.1:n.*1509dup
ENST00000648260.1:c.1402-10864dup	ENSP00000497957.1:n.1402-10864dup
ENST00000649406.1:c.1612dup	ENSP00000497965.1:p.Thr538AsnfsTer2
ENST00000649781.1:c.1612dup	ENSP00000497203.1:p.Thr538AsnfsTer2
ENST00000003084.10:c.1795dup	ENSP00000003084.6:p.Thr599AsnfsTer2
ENST00000426809.5:c.1705dup	ENSP00000389119.1:p.Thr569AsnfsTer2
NM_000492.3:c.1795dup , LRG_663t1:c.1795dup	NP_000483.3:p.Thr599AsnfsTer2
XM_011515751.1:c.1885dup	XP_011514053.1:p.Thr629AsnfsTer2
XM_011515752.1:c.1885dup	XP_011514054.1:p.Thr629AsnfsTer2
XM_011515753.1:c.1552dup	XP_011514055.1:p.Thr518AsnfsTer2
XM_011515754.1:c.1552dup	XP_011514056.1:p.Thr518AsnfsTer2
NM_000492.4:c.1795dup MANE Select	NP_000483.3:p.Thr599AsnfsTer2