Canonical Allele Identifier: CA1737384981

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117610597_117610602delinsATAGTG , CM000669.2:g.117610597_117610602delinsATAGTG	GRCh38
NC_000007.13:g.117250651_117250656delinsATAGTG , CM000669.1:g.117250651_117250656delinsATAGTG	GRCh37
NC_000007.12:g.117037887_117037892delinsATAGTG	NCBI36
NG_016465.4:g.149814_149819delinsATAGTG , LRG_663:g.149814_149819delinsATAGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3067_3072delinsATAGTG	ENSP00000497673.2:p.Ile1023=
ENST00000647978.2:c.*2781_*2786delinsATAGTG	ENSP00000497658.1:n.*2781_*2786delinsATAGTG
ENST00000649781.2:c.2884_2889delinsATAGTG	ENSP00000497203.1:p.Ile962=
ENST00000685018.2:c.3067_3072delinsATAGTG	ENSP00000510194.2:p.Ile1023=
ENST00000687278.2:c.3067_3072delinsATAGTG	ENSP00000509593.2:p.Ile1023=
ENST00000699585.1:c.3067_3072delinsATAGTG	ENSP00000514456.1:p.Ile1023=
ENST00000699598.1:c.3067_3072delinsATAGTG	ENSP00000514467.1:p.Ile1023=
ENST00000699599.1:c.3067_3072delinsATAGTG	ENSP00000514468.1:p.Ile1023=
ENST00000699600.1:c.3067_3072delinsATAGTG	ENSP00000514469.1:p.Ile1023=
ENST00000699601.1:c.*1367_*1372delinsATAGTG	ENSP00000514470.1:n.*1367_*1372delinsATAGTG
ENST00000699602.1:c.3067_3072delinsATAGTG	ENSP00000514471.1:p.Ile1023=
ENST00000699604.1:c.*2891_*2896delinsATAGTG	ENSP00000514472.1:n.*2891_*2896delinsATAGTG
ENST00000699605.1:c.2641_2646delinsATAGTG	ENSP00000514473.1:p.Ile881=
ENST00000687278.1:c.658_663delinsATAGTG	ENSP00000509593.1:p.Ile220=
ENST00000003084.11:c.3067_3072delinsATAGTG MANE Select	ENSP00000003084.6:p.Ile1023=
ENST00000647720.1:c.717_722delinsATAGTG
ENST00000648260.1:c.1849_1854delinsATAGTG	ENSP00000497957.1:p.Ile617=
ENST00000649406.1:c.2884_2889delinsATAGTG	ENSP00000497965.1:p.Ile962=
ENST00000649781.1:c.2884_2889delinsATAGTG	ENSP00000497203.1:p.Ile962=
ENST00000003084.10:c.3067_3072delinsATAGTG	ENSP00000003084.6:p.Ile1023=
ENST00000426809.5:c.2977_2982delinsATAGTG	ENSP00000389119.1:p.Ile993=
NM_000492.3:c.3067_3072delinsATAGTG , LRG_663t1:c.3067_3072delinsATAGTG	NP_000483.3:p.Ile1023=
XM_011515751.1:c.3157_3162delinsATAGTG	XP_011514053.1:p.Ile1053=
XM_011515752.1:c.3157_3162delinsATAGTG	XP_011514054.1:p.Ile1053=
XM_011515753.1:c.2824_2829delinsATAGTG	XP_011514055.1:p.Ile942=
XM_011515754.1:c.2824_2829delinsATAGTG	XP_011514056.1:p.Ile942=
NM_000492.4:c.3067_3072delinsATAGTG MANE Select	NP_000483.3:p.Ile1023=