Canonical Allele Identifier: CA2695208325

Gene: CFTR CFTR-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117559587_117559591dup , CM000669.2:g.117559587_117559591dup	GRCh38
NC_000007.13:g.117199641_117199645dup , CM000669.1:g.117199641_117199645dup	GRCh37
NC_000007.12:g.116986877_116986881dup	NCBI36
NG_016465.4:g.98804_98808dup , LRG_663:g.98804_98808dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.1516_1520dup (CFTR)	ENSP00000497673.2:p.Phe508SerfsTer21
ENST00000647978.2:c.*1230_*1234dup (CFTR)	ENSP00000497658.1:n.*1230_*1234dup
ENST00000649781.2:c.1333_1337dup (CFTR)	ENSP00000497203.1:p.Phe447SerfsTer21
ENST00000685018.2:c.1516_1520dup (CFTR)	ENSP00000510194.2:p.Phe508SerfsTer21
ENST00000687278.2:c.1516_1520dup (CFTR)	ENSP00000509593.2:p.Phe508SerfsTer21
ENST00000699585.1:c.1516_1520dup (CFTR)	ENSP00000514456.1:p.Phe508SerfsTer21
ENST00000699596.1:c.1516_1520dup (CFTR)	ENSP00000514465.1:p.Phe508SerfsTer21
ENST00000699597.1:c.*74_*78dup (CFTR)	ENSP00000514466.1:n.*74_*78dup
ENST00000699598.1:c.1516_1520dup (CFTR)	ENSP00000514467.1:p.Phe508SerfsTer21
ENST00000699599.1:c.1516_1520dup (CFTR)	ENSP00000514468.1:p.Phe508SerfsTer21
ENST00000699600.1:c.1516_1520dup (CFTR)	ENSP00000514469.1:p.Phe508SerfsTer21
ENST00000699601.1:c.1516_1520dup (CFTR)	ENSP00000514470.1:p.Phe508SerfsTer21
ENST00000699602.1:c.1516_1520dup (CFTR)	ENSP00000514471.1:p.Phe508SerfsTer21
ENST00000699604.1:c.*1340_*1344dup (CFTR)	ENSP00000514472.1:n.*1340_*1344dup
ENST00000699605.1:c.1090_1094dup (CFTR)	ENSP00000514473.1:p.Phe366SerfsTer21
ENST00000003084.11:c.1516_1520dup (CFTR) MANE Select	ENSP00000003084.6:p.Phe508SerfsTer21
ENST00000647978.1:c.*1230_*1234dup (CFTR)	ENSP00000497658.1:n.*1230_*1234dup
ENST00000648260.1:c.1333_1337dup (CFTR)	ENSP00000497957.1:p.Phe447SerfsTer21
ENST00000649406.1:c.1333_1337dup (CFTR)	ENSP00000497965.1:p.Phe447SerfsTer21
ENST00000649781.1:c.1333_1337dup (CFTR)	ENSP00000497203.1:p.Phe447SerfsTer21
ENST00000003084.10:c.1516_1520dup (CFTR)	ENSP00000003084.6:p.Phe508SerfsTer21
ENST00000426809.5:c.1426_1430dup (CFTR)	ENSP00000389119.1:p.Phe478SerfsTer21
NM_000492.3:c.1516_1520dup , LRG_663t1:c.1516_1520dup (CFTR)	NP_000483.3:p.Phe508SerfsTer21
XM_011515751.1:c.1606_1610dup (CFTR)	XP_011514053.1:p.Phe538SerfsTer21
XM_011515752.1:c.1606_1610dup (CFTR)	XP_011514054.1:p.Phe538SerfsTer21
XM_011515753.1:c.1273_1277dup (CFTR)	XP_011514055.1:p.Phe427SerfsTer21
XM_011515754.1:c.1273_1277dup (CFTR)	XP_011514056.1:p.Phe427SerfsTer21
NR_149084.1:n.221+1144_221+1148dup (CFTR-AS1)
NM_000492.4:c.1516_1520dup (CFTR) MANE Select	NP_000483.3:p.Phe508SerfsTer21