Canonical Allele Identifier: CA1737392228

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117614689_117614690delinsCT , CM000669.2:g.117614689_117614690delinsCT	GRCh38
NC_000007.13:g.117254743_117254744delinsCT , CM000669.1:g.117254743_117254744delinsCT	GRCh37
NC_000007.12:g.117041979_117041980delinsCT	NCBI36
NG_016465.4:g.153906_153907delinsCT , LRG_663:g.153906_153907delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3444_3445delinsCT	ENSP00000497673.2:p.Asn1148=
ENST00000647978.2:c.*3158_*3159delinsCT	ENSP00000497658.1:n.*3158_*3159delinsCT
ENST00000649781.2:c.3261_3262delinsCT	ENSP00000497203.1:p.Asn1087=
ENST00000685018.2:c.3444_3445delinsCT	ENSP00000510194.2:p.Asn1148=
ENST00000687278.2:c.3444_3445delinsCT	ENSP00000509593.2:p.Asn1148=
ENST00000699585.1:c.3444_3445delinsCT	ENSP00000514456.1:p.Asn1148=
ENST00000699598.1:c.3444_3445delinsCT	ENSP00000514467.1:p.Asn1148=
ENST00000699599.1:c.3444_3445delinsCT	ENSP00000514468.1:p.Asn1148=
ENST00000699600.1:c.3444_3445delinsCT	ENSP00000514469.1:p.Asn1148=
ENST00000699601.1:c.*1819_*1820delinsCT	ENSP00000514470.1:n.*1819_*1820delinsCT
ENST00000699602.1:c.3438_3439delinsCT	ENSP00000514471.1:p.Asn1146=
ENST00000699604.1:c.*3268_*3269delinsCT	ENSP00000514472.1:n.*3268_*3269delinsCT
ENST00000699605.1:c.3018_3019delinsCT	ENSP00000514473.1:p.Asn1006=
ENST00000685018.1:c.192_193delinsCT	ENSP00000510194.1:p.Asn64=
ENST00000687278.1:c.1035_1036delinsCT	ENSP00000509593.1:p.Asn345=
ENST00000689011.1:c.26_27delinsCT
ENST00000003084.11:c.3444_3445delinsCT MANE Select	ENSP00000003084.6:p.Asn1148=
ENST00000647720.1:c.1094_1095delinsCT
ENST00000648260.1:c.2226_2227delinsCT	ENSP00000497957.1:p.Asn742=
ENST00000649406.1:c.3261_3262delinsCT	ENSP00000497965.1:p.Asn1087=
ENST00000649781.1:c.3261_3262delinsCT	ENSP00000497203.1:p.Asn1087=
ENST00000003084.10:c.3444_3445delinsCT	ENSP00000003084.6:p.Asn1148=
ENST00000426809.5:c.3354_3355delinsCT	ENSP00000389119.1:p.Asn1118=
ENST00000468795.1:c.269_270delinsCT
NM_000492.3:c.3444_3445delinsCT , LRG_663t1:c.3444_3445delinsCT	NP_000483.3:p.Asn1148=
XM_011515751.1:c.3534_3535delinsCT	XP_011514053.1:p.Asn1178=
XM_011515752.1:c.3534_3535delinsCT	XP_011514054.1:p.Asn1178=
XM_011515753.1:c.3201_3202delinsCT	XP_011514055.1:p.Asn1067=
XM_011515754.1:c.3201_3202delinsCT	XP_011514056.1:p.Asn1067=
NM_000492.4:c.3444_3445delinsCT MANE Select	NP_000483.3:p.Asn1148=