Canonical Allele Identifier: CA915945445

Gene: CFTR

Linked Data

• ClinVar Variation Id: 818115
• ClinVar RCV Id: RCV001009402
• dbSNP Id: rs1584830154

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627652_117627653delinsG , CM000669.2:g.117627652_117627653delinsG	GRCh38
NC_000007.13:g.117267706_117267707delinsG , CM000669.1:g.117267706_117267707delinsG	GRCh37
NC_000007.12:g.117054942_117054943delinsG	NCBI36
NG_016465.4:g.166869_166870delinsG , LRG_663:g.166869_166870delinsG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3517+82_3517+83delinsG	ENSP00000497673.2:n.3517+82_3517+83delinsG
ENST00000647978.2:c.*3313_*3314delinsG	ENSP00000497658.1:n.*3313_*3314delinsG
ENST00000649781.2:c.3416_3417delinsG	ENSP00000497203.1:p.Lys1139ArgfsTer11
ENST00000685018.2:c.3599_3600delinsG	ENSP00000510194.2:p.Lys1200ArgfsTer11
ENST00000687278.2:c.*252_*253delinsG	ENSP00000509593.2:n.*252_*253delinsG
ENST00000699585.1:c.3517+82_3517+83delinsG	ENSP00000514456.1:n.3517+82_3517+83delinsG
ENST00000699598.1:c.3599_3600delinsG	ENSP00000514467.1:p.Lys1200ArgfsTer11
ENST00000699599.1:c.3599_3600delinsG	ENSP00000514468.1:p.Lys1200ArgfsTer11
ENST00000699600.1:c.*260_*261delinsG	ENSP00000514469.1:n.*260_*261delinsG
ENST00000699601.1:c.*1974_*1975delinsG	ENSP00000514470.1:n.*1974_*1975delinsG
ENST00000699602.1:c.3593_3594delinsG	ENSP00000514471.1:p.Lys1198ArgfsTer11
ENST00000699604.1:c.*3423_*3424delinsG	ENSP00000514472.1:n.*3423_*3424delinsG
ENST00000699605.1:c.3173_3174delinsG	ENSP00000514473.1:p.Lys1058ArgfsTer11
ENST00000685018.1:c.347_348delinsG	ENSP00000510194.1:p.Lys116ArgfsTer11
ENST00000687278.1:c.1386_1387delinsG	ENSP00000509593.1:n.1386_1387delinsG
ENST00000689011.1:c.181_182delinsG
ENST00000003084.11:c.3599_3600delinsG MANE Select	ENSP00000003084.6:p.Lys1200ArgfsTer11
ENST00000647720.1:c.1167+82_1167+83delinsG
ENST00000648260.1:c.2381_2382delinsG	ENSP00000497957.1:p.Lys794ArgfsTer11
ENST00000649406.1:c.3416_3417delinsG	ENSP00000497965.1:p.Lys1139ArgfsTer11
ENST00000649781.1:c.3416_3417delinsG	ENSP00000497203.1:p.Lys1139ArgfsTer11
ENST00000003084.10:c.3599_3600delinsG	ENSP00000003084.6:p.Lys1200ArgfsTer11
ENST00000426809.5:c.3509_3510delinsG	ENSP00000389119.1:p.Lys1170ArgfsTer11
ENST00000468795.1:c.424_425delinsG
NM_000492.3:c.3599_3600delinsG , LRG_663t1:c.3599_3600delinsG	NP_000483.3:p.Lys1200ArgfsTer11
XM_011515751.1:c.3689_3690delinsG	XP_011514053.1:p.Lys1230ArgfsTer11
XM_011515752.1:c.3689_3690delinsG	XP_011514054.1:p.Lys1230ArgfsTer11
XM_011515753.1:c.3356_3357delinsG	XP_011514055.1:p.Lys1119ArgfsTer11
XM_011515754.1:c.3356_3357delinsG	XP_011514056.1:p.Lys1119ArgfsTer11
NM_000492.4:c.3599_3600delinsG MANE Select	NP_000483.3:p.Lys1200ArgfsTer11