Canonical Allele Identifier: CA2831039225

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642502del , CM000669.2:g.117642502del	GRCh38
NC_000007.13:g.117282556del , CM000669.1:g.117282556del	GRCh37
NC_000007.12:g.117069792del	NCBI36
NG_016465.4:g.181719del , LRG_663:g.181719del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3582del	ENSP00000497673.2:p.Glu1195AsnfsTer?
ENST00000647978.2:c.*3496del	ENSP00000497658.1:n.*3496del
ENST00000649781.2:c.3599del	ENSP00000497203.1:p.Leu1200ArgfsTer17
ENST00000685018.2:c.3782del	ENSP00000510194.2:p.Leu1261ArgfsTer17
ENST00000687278.2:c.*435del	ENSP00000509593.2:n.*435del
ENST00000699585.1:c.3582del	ENSP00000514456.1:p.Glu1195AsnfsTer?
ENST00000699598.1:c.3782del	ENSP00000514467.1:p.Leu1261ArgfsTer17
ENST00000699599.1:c.3782del	ENSP00000514468.1:p.Leu1261ArgfsTer17
ENST00000699600.1:c.*443del	ENSP00000514469.1:n.*443del
ENST00000699601.1:c.*2157del	ENSP00000514470.1:n.*2157del
ENST00000699602.1:c.3776del	ENSP00000514471.1:p.Leu1259ArgfsTer17
ENST00000699604.1:c.*3606del	ENSP00000514472.1:n.*3606del
ENST00000699605.1:c.3356del	ENSP00000514473.1:p.Leu1119ArgfsTer17
ENST00000685018.1:c.530del	ENSP00000510194.1:p.Leu177ArgfsTer17
ENST00000687278.1:c.1569del	ENSP00000509593.1:n.1569del
ENST00000689011.1:c.364del
ENST00000003084.11:c.3782del MANE Select	ENSP00000003084.6:p.Leu1261ArgfsTer17
ENST00000647720.1:c.1232del
ENST00000649781.1:c.3599del	ENSP00000497203.1:p.Leu1200ArgfsTer17
ENST00000003084.10:c.3782del	ENSP00000003084.6:p.Leu1261ArgfsTer17
ENST00000426809.5:c.3692del	ENSP00000389119.1:p.Leu1231ArgfsTer17
NM_000492.3:c.3782del , LRG_663t1:c.3782del	NP_000483.3:p.Leu1261ArgfsTer17
XM_011515751.1:c.3872del	XP_011514053.1:p.Leu1291ArgfsTer17
XM_011515752.1:c.3872del	XP_011514054.1:p.Leu1291ArgfsTer17
XM_011515753.1:c.3539del	XP_011514055.1:p.Leu1180ArgfsTer17
XM_011515754.1:c.3539del	XP_011514056.1:p.Leu1180ArgfsTer17
NM_000492.4:c.3782del MANE Select	NP_000483.3:p.Leu1261ArgfsTer17