Canonical Allele Identifier: CA1737393826

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117591958_117591965delinsCAAAACTA , CM000669.2:g.117591958_117591965delinsCAAAACTA	GRCh38
NC_000007.13:g.117232012_117232019delinsCAAAACTA , CM000669.1:g.117232012_117232019delinsCAAAACTA	GRCh37
NC_000007.12:g.117019248_117019255delinsCAAAACTA	NCBI36
NG_016465.4:g.131175_131182delinsCAAAACTA , LRG_663:g.131175_131182delinsCAAAACTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.1791_1798delinsCAAAACTA	ENSP00000497673.2:p.Asn597=
ENST00000647978.2:c.*1505_*1512delinsCAAAACTA	ENSP00000497658.1:n.*1505_*1512delinsCAAA...
ENST00000649781.2:c.1608_1615delinsCAAAACTA	ENSP00000497203.1:p.Asn536=
ENST00000685018.2:c.1791_1798delinsCAAAACTA	ENSP00000510194.2:p.Asn597=
ENST00000687278.2:c.1791_1798delinsCAAAACTA	ENSP00000509593.2:p.Asn597=
ENST00000699585.1:c.1791_1798delinsCAAAACTA	ENSP00000514456.1:p.Asn597=
ENST00000699598.1:c.1791_1798delinsCAAAACTA	ENSP00000514467.1:p.Asn597=
ENST00000699599.1:c.1791_1798delinsCAAAACTA	ENSP00000514468.1:p.Asn597=
ENST00000699600.1:c.1791_1798delinsCAAAACTA	ENSP00000514469.1:p.Asn597=
ENST00000699601.1:c.*91_*98delinsCAAAACTA	ENSP00000514470.1:n.*91_*98delinsCAAAACTA...
ENST00000699602.1:c.1791_1798delinsCAAAACTA	ENSP00000514471.1:p.Asn597=
ENST00000699604.1:c.*1615_*1622delinsCAAAACTA	ENSP00000514472.1:n.*1615_*1622delinsCAAA...
ENST00000699605.1:c.1365_1372delinsCAAAACTA	ENSP00000514473.1:p.Asn455=
ENST00000003084.11:c.1791_1798delinsCAAAACTA MANE Select	ENSP00000003084.6:p.Asn597=
ENST00000647978.1:c.*1505_*1512delinsCAAAACTA	ENSP00000497658.1:n.*1505_*1512delinsCAAA...
ENST00000648260.1:c.1402-10868_1402-10861delinsCAAAACTA	ENSP00000497957.1:n.1402-10868_1402-10861...
ENST00000649406.1:c.1608_1615delinsCAAAACTA	ENSP00000497965.1:p.Asn536=
ENST00000649781.1:c.1608_1615delinsCAAAACTA	ENSP00000497203.1:p.Asn536=
ENST00000003084.10:c.1791_1798delinsCAAAACTA	ENSP00000003084.6:p.Asn597=
ENST00000426809.5:c.1701_1708delinsCAAAACTA	ENSP00000389119.1:p.Asn567=
NM_000492.3:c.1791_1798delinsCAAAACTA , LRG_663t1:c.1791_1798delinsCAAAACTA	NP_000483.3:p.Asn597=
XM_011515751.1:c.1881_1888delinsCAAAACTA	XP_011514053.1:p.Asn627=
XM_011515752.1:c.1881_1888delinsCAAAACTA	XP_011514054.1:p.Asn627=
XM_011515753.1:c.1548_1555delinsCAAAACTA	XP_011514055.1:p.Asn516=
XM_011515754.1:c.1548_1555delinsCAAAACTA	XP_011514056.1:p.Asn516=
NM_000492.4:c.1791_1798delinsCAAAACTA MANE Select	NP_000483.3:p.Asn597=