Canonical Allele Identifier: CA915945444

Gene: CFTR

Linked Data

• ClinVar Variation Id: 818114
• ClinVar RCV Id: RCV001009401
• dbSNP Id: rs1584830149

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627651_117627652delinsG , CM000669.2:g.117627651_117627652delinsG	GRCh38
NC_000007.13:g.117267705_117267706delinsG , CM000669.1:g.117267705_117267706delinsG	GRCh37
NC_000007.12:g.117054941_117054942delinsG	NCBI36
NG_016465.4:g.166868_166869delinsG , LRG_663:g.166868_166869delinsG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3517+81_3517+82delinsG	ENSP00000497673.2:n.3517+81_3517+82delinsG
ENST00000647978.2:c.*3312_*3313delinsG	ENSP00000497658.1:n.*3312_*3313delinsG
ENST00000649781.2:c.3415_3416delinsG	ENSP00000497203.1:p.Lys1139GlufsTer11
ENST00000685018.2:c.3598_3599delinsG	ENSP00000510194.2:p.Lys1200GlufsTer11
ENST00000687278.2:c.*251_*252delinsG	ENSP00000509593.2:n.*251_*252delinsG
ENST00000699585.1:c.3517+81_3517+82delinsG	ENSP00000514456.1:n.3517+81_3517+82delinsG
ENST00000699598.1:c.3598_3599delinsG	ENSP00000514467.1:p.Lys1200GlufsTer11
ENST00000699599.1:c.3598_3599delinsG	ENSP00000514468.1:p.Lys1200GlufsTer11
ENST00000699600.1:c.*259_*260delinsG	ENSP00000514469.1:n.*259_*260delinsG
ENST00000699601.1:c.*1973_*1974delinsG	ENSP00000514470.1:n.*1973_*1974delinsG
ENST00000699602.1:c.3592_3593delinsG	ENSP00000514471.1:p.Lys1198GlufsTer11
ENST00000699604.1:c.*3422_*3423delinsG	ENSP00000514472.1:n.*3422_*3423delinsG
ENST00000699605.1:c.3172_3173delinsG	ENSP00000514473.1:p.Lys1058GlufsTer11
ENST00000685018.1:c.346_347delinsG	ENSP00000510194.1:p.Lys116GlufsTer11
ENST00000687278.1:c.1385_1386delinsG	ENSP00000509593.1:n.1385_1386delinsG
ENST00000689011.1:c.180_181delinsG
ENST00000003084.11:c.3598_3599delinsG MANE Select	ENSP00000003084.6:p.Lys1200GlufsTer11
ENST00000647720.1:c.1167+81_1167+82delinsG
ENST00000648260.1:c.2380_2381delinsG	ENSP00000497957.1:p.Lys794GlufsTer11
ENST00000649406.1:c.3415_3416delinsG	ENSP00000497965.1:p.Lys1139GlufsTer11
ENST00000649781.1:c.3415_3416delinsG	ENSP00000497203.1:p.Lys1139GlufsTer11
ENST00000003084.10:c.3598_3599delinsG	ENSP00000003084.6:p.Lys1200GlufsTer11
ENST00000426809.5:c.3508_3509delinsG	ENSP00000389119.1:p.Lys1170GlufsTer11
ENST00000468795.1:c.423_424delinsG
NM_000492.3:c.3598_3599delinsG , LRG_663t1:c.3598_3599delinsG	NP_000483.3:p.Lys1200GlufsTer11
XM_011515751.1:c.3688_3689delinsG	XP_011514053.1:p.Lys1230GlufsTer11
XM_011515752.1:c.3688_3689delinsG	XP_011514054.1:p.Lys1230GlufsTer11
XM_011515753.1:c.3355_3356delinsG	XP_011514055.1:p.Lys1119GlufsTer11
XM_011515754.1:c.3355_3356delinsG	XP_011514056.1:p.Lys1119GlufsTer11
NM_000492.4:c.3598_3599delinsG MANE Select	NP_000483.3:p.Lys1200GlufsTer11