Canonical Allele Identifier: CA326890

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1794735
• ClinVar RCV Id: RCV002453161
• dbSNP Id: rs397508420
• MyVariant Identifiers: chr7:g.117243615_117243618delinsTGAGTACTATGAG (hg19) ; chr7:g.117603561_117603564delinsTGAGTACTATGAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603561_117603564delinsTGAGTACTATGAG , CM000669.2:g.117603561_117603564delinsTGAGTACTATGAG	GRCh38
NC_000007.13:g.117243615_117243618delinsTGAGTACTATGAG , CM000669.1:g.117243615_117243618delinsTGAGTACTATGAG	GRCh37
NC_000007.12:g.117030851_117030854delinsTGAGTACTATGAG	NCBI36
NG_016465.4:g.142778_142781delinsTGAGTACTATGAG , LRG_663:g.142778_142781delinsTGAGTACTATGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2687_2690delinsTGAGTACTATGAG	ENSP00000497673.2:p.Thr896_His897delinsMetSerThrMetSer
ENST00000647978.2:c.*2401_*2404delinsTGAGTACTATGAG	ENSP00000497658.1:n.*2401_*2404delinsTGAGTACTATGAG
ENST00000649781.2:c.2504_2507delinsTGAGTACTATGAG	ENSP00000497203.1:p.Thr835_His836delinsMetSerThrMetSer
ENST00000685018.2:c.2687_2690delinsTGAGTACTATGAG	ENSP00000510194.2:p.Thr896_His897delinsMetSerThrMetSer
ENST00000687278.2:c.2687_2690delinsTGAGTACTATGAG	ENSP00000509593.2:p.Thr896_His897delinsMetSerThrMetSer
ENST00000699585.1:c.2687_2690delinsTGAGTACTATGAG	ENSP00000514456.1:p.Thr896_His897delinsMetSerThrMetSer
ENST00000699598.1:c.2687_2690delinsTGAGTACTATGAG	ENSP00000514467.1:p.Thr896_His897delinsMetSerThrMetSer
ENST00000699599.1:c.2687_2690delinsTGAGTACTATGAG	ENSP00000514468.1:p.Thr896_His897delinsMetSerThrMetSer
ENST00000699600.1:c.2687_2690delinsTGAGTACTATGAG	ENSP00000514469.1:p.Thr896_His897delinsMetSerThrMetSer
ENST00000699601.1:c.*987_*990delinsTGAGTACTATGAG	ENSP00000514470.1:n.*987_*990delinsTGAGTACTATGAG
ENST00000699602.1:c.2687_2690delinsTGAGTACTATGAG	ENSP00000514471.1:p.Thr896_His897delinsMetSerThrMetSer
ENST00000699604.1:c.*2511_*2514delinsTGAGTACTATGAG	ENSP00000514472.1:n.*2511_*2514delinsTGAGTACTATGAG
ENST00000699605.1:c.2261_2264delinsTGAGTACTATGAG	ENSP00000514473.1:p.Thr754_His755delinsMetSerThrMetSer
ENST00000687278.1:c.278_281delinsTGAGTACTATGAG	ENSP00000509593.1:p.Thr93_His94delinsMetSerThrMetSer
ENST00000003084.11:c.2687_2690delinsTGAGTACTATGAG MANE Select	ENSP00000003084.6:p.Thr896_His897delinsMetSerThrMetSer
ENST00000647720.1:c.337_340delinsTGAGTACTATGAG
ENST00000648260.1:c.1469_1472delinsTGAGTACTATGAG	ENSP00000497957.1:p.Thr490_His491delinsMetSerThrMetSer
ENST00000649406.1:c.2504_2507delinsTGAGTACTATGAG	ENSP00000497965.1:p.Thr835_His836delinsMetSerThrMetSer
ENST00000649781.1:c.2504_2507delinsTGAGTACTATGAG	ENSP00000497203.1:p.Thr835_His836delinsMetSerThrMetSer
ENST00000003084.10:c.2687_2690delinsTGAGTACTATGAG	ENSP00000003084.6:p.Thr896_His897delinsMetSerThrMetSer
ENST00000426809.5:c.2597_2600delinsTGAGTACTATGAG	ENSP00000389119.1:p.Thr866_His867delinsMetSerThrMetSer
NM_000492.3:c.2687_2690delinsTGAGTACTATGAG , LRG_663t1:c.2687_2690delinsTGAGTACTATGAG	NP_000483.3:p.Thr896_His897delinsMetSerThrMetSer
XM_011515751.1:c.2777_2780delinsTGAGTACTATGAG	XP_011514053.1:p.Thr926_His927delinsMetSerThrMetSer
XM_011515752.1:c.2777_2780delinsTGAGTACTATGAG	XP_011514054.1:p.Thr926_His927delinsMetSerThrMetSer
XM_011515753.1:c.2444_2447delinsTGAGTACTATGAG	XP_011514055.1:p.Thr815_His816delinsMetSerThrMetSer
XM_011515754.1:c.2444_2447delinsTGAGTACTATGAG	XP_011514056.1:p.Thr815_His816delinsMetSerThrMetSer
NM_000492.4:c.2687_2690delinsTGAGTACTATGAG MANE Select	NP_000483.3:p.Thr896_His897delinsMetSerThrMetSer