Canonical Allele Identifier: CA1737359344

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117530965_117530968delinsAAGG , CM000669.2:g.117530965_117530968delinsAAGG	GRCh38
NC_000007.13:g.117171019_117171022delinsAAGG , CM000669.1:g.117171019_117171022delinsAAGG	GRCh37
NC_000007.12:g.116958255_116958258delinsAAGG	NCBI36
NG_016465.4:g.70182_70185delinsAAGG , LRG_663:g.70182_70185delinsAAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.340_343delinsAAGG	ENSP00000497673.2:p.Lys114=
ENST00000647978.2:c.*237_*240delinsAAGG	ENSP00000497658.1:n.*237_*240delinsAAGG
ENST00000649781.2:c.340_343delinsAAGG	ENSP00000497203.1:p.Lys114=
ENST00000685018.2:c.340_343delinsAAGG	ENSP00000510194.2:p.Lys114=
ENST00000687278.2:c.340_343delinsAAGG	ENSP00000509593.2:p.Lys114=
ENST00000699585.1:c.340_343delinsAAGG	ENSP00000514456.1:p.Lys114=
ENST00000699596.1:c.340_343delinsAAGG	ENSP00000514465.1:p.Lys114=
ENST00000699597.1:c.340_343delinsAAGG	ENSP00000514466.1:p.Lys114=
ENST00000699598.1:c.340_343delinsAAGG	ENSP00000514467.1:p.Lys114=
ENST00000699599.1:c.340_343delinsAAGG	ENSP00000514468.1:p.Lys114=
ENST00000699600.1:c.340_343delinsAAGG	ENSP00000514469.1:p.Lys114=
ENST00000699601.1:c.340_343delinsAAGG	ENSP00000514470.1:p.Lys114=
ENST00000699602.1:c.340_343delinsAAGG	ENSP00000514471.1:p.Lys114=
ENST00000699604.1:c.*164_*167delinsAAGG	ENSP00000514472.1:n.*164_*167delinsAAGG
ENST00000699605.1:c.97_100delinsAAGG	ENSP00000514473.1:p.Lys33=
ENST00000446805.2:c.97_100delinsAAGG	ENSP00000417012.1:p.Lys33=
ENST00000003084.11:c.340_343delinsAAGG MANE Select	ENSP00000003084.6:p.Lys114=
ENST00000647978.1:c.*237_*240delinsAAGG	ENSP00000497658.1:n.*237_*240delinsAAGG
ENST00000648260.1:c.340_343delinsAAGG	ENSP00000497957.1:p.Lys114=
ENST00000649406.1:c.340_343delinsAAGG	ENSP00000497965.1:p.Lys114=
ENST00000649781.1:c.340_343delinsAAGG	ENSP00000497203.1:p.Lys114=
ENST00000673785.1:c.97_100delinsAAGG	ENSP00000501235.1:p.Lys33=
ENST00000003084.10:c.340_343delinsAAGG	ENSP00000003084.6:p.Lys114=
ENST00000426809.5:c.340_343delinsAAGG	ENSP00000389119.1:p.Lys114=
ENST00000446805.1:c.97_100delinsAAGG	ENSP00000417012.1:p.Lys33=
NM_000492.3:c.340_343delinsAAGG , LRG_663t1:c.340_343delinsAAGG	NP_000483.3:p.Lys114=
XM_011515751.1:c.430_433delinsAAGG	XP_011514053.1:p.Lys144=
XM_011515752.1:c.430_433delinsAAGG	XP_011514054.1:p.Lys144=
XM_011515753.1:c.97_100delinsAAGG	XP_011514055.1:p.Lys33=
XM_011515754.1:c.97_100delinsAAGG	XP_011514056.1:p.Lys33=
NM_000492.4:c.340_343delinsAAGG MANE Select	NP_000483.3:p.Lys114=