Canonical Allele Identifier: CA2580076346

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1725679
• ClinVar RCV Id: RCV002309363

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642502_117642503del , CM000669.2:g.117642502_117642503del	GRCh38
NC_000007.13:g.117282556_117282557del , CM000669.1:g.117282556_117282557del	GRCh37
NC_000007.12:g.117069792_117069793del	NCBI36
NG_016465.4:g.181719_181720del , LRG_663:g.181719_181720del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3582_3583del	ENSP00000497673.2:p.Glu1195ThrfsTer16
ENST00000647978.2:c.*3496_*3497del	ENSP00000497658.1:n.*3496_*3497del
ENST00000649781.2:c.3599_3600del	ENSP00000497203.1:p.Leu1200GlnfsTer3
ENST00000685018.2:c.3782_3783del	ENSP00000510194.2:p.Leu1261GlnfsTer3
ENST00000687278.2:c.*435_*436del	ENSP00000509593.2:n.*435_*436del
ENST00000699585.1:c.3582_3583del	ENSP00000514456.1:p.Glu1195ThrfsTer16
ENST00000699598.1:c.3782_3783del	ENSP00000514467.1:p.Leu1261GlnfsTer3
ENST00000699599.1:c.3782_3783del	ENSP00000514468.1:p.Leu1261GlnfsTer3
ENST00000699600.1:c.*443_*444del	ENSP00000514469.1:n.*443_*444del
ENST00000699601.1:c.*2157_*2158del	ENSP00000514470.1:n.*2157_*2158del
ENST00000699602.1:c.3776_3777del	ENSP00000514471.1:p.Leu1259GlnfsTer3
ENST00000699604.1:c.*3606_*3607del	ENSP00000514472.1:n.*3606_*3607del
ENST00000699605.1:c.3356_3357del	ENSP00000514473.1:p.Leu1119GlnfsTer3
ENST00000685018.1:c.530_531del	ENSP00000510194.1:p.Leu177GlnfsTer3
ENST00000687278.1:c.1569_1570del	ENSP00000509593.1:n.1569_1570del
ENST00000689011.1:c.364_365del
ENST00000003084.11:c.3782_3783del MANE Select	ENSP00000003084.6:p.Leu1261GlnfsTer3
ENST00000647720.1:c.1232_1233del
ENST00000649781.1:c.3599_3600del	ENSP00000497203.1:p.Leu1200GlnfsTer3
ENST00000003084.10:c.3782_3783del	ENSP00000003084.6:p.Leu1261GlnfsTer3
ENST00000426809.5:c.3692_3693del	ENSP00000389119.1:p.Leu1231GlnfsTer3
NM_000492.3:c.3782_3783del , LRG_663t1:c.3782_3783del	NP_000483.3:p.Leu1261GlnfsTer3
XM_011515751.1:c.3872_3873del	XP_011514053.1:p.Leu1291GlnfsTer3
XM_011515752.1:c.3872_3873del	XP_011514054.1:p.Leu1291GlnfsTer3
XM_011515753.1:c.3539_3540del	XP_011514055.1:p.Leu1180GlnfsTer3
XM_011515754.1:c.3539_3540del	XP_011514056.1:p.Leu1180GlnfsTer3
NM_000492.4:c.3782_3783del MANE Select	NP_000483.3:p.Leu1261GlnfsTer3