Canonical Allele Identifier: CA164965248

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117610597_117610602delinsCACTAT , CM000669.2:g.117610597_117610602delinsCACTAT	GRCh38
NC_000007.13:g.117250651_117250656delinsCACTAT , CM000669.1:g.117250651_117250656delinsCACTAT	GRCh37
NC_000007.12:g.117037887_117037892delinsCACTAT	NCBI36
NG_016465.4:g.149814_149819delinsCACTAT , LRG_663:g.149814_149819delinsCACTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3067_3072delinsCACTAT	ENSP00000497673.2:p.Ile1023_Val1024delinsHisTyr
ENST00000647978.2:c.*2781_*2786delinsCACTAT	ENSP00000497658.1:n.*2781_*2786delinsCACTAT
ENST00000649781.2:c.2884_2889delinsCACTAT	ENSP00000497203.1:p.Ile962_Val963delinsHisTyr
ENST00000685018.2:c.3067_3072delinsCACTAT	ENSP00000510194.2:p.Ile1023_Val1024delinsHisTyr
ENST00000687278.2:c.3067_3072delinsCACTAT	ENSP00000509593.2:p.Ile1023_Val1024delinsHisTyr
ENST00000699585.1:c.3067_3072delinsCACTAT	ENSP00000514456.1:p.Ile1023_Val1024delinsHisTyr
ENST00000699598.1:c.3067_3072delinsCACTAT	ENSP00000514467.1:p.Ile1023_Val1024delinsHisTyr
ENST00000699599.1:c.3067_3072delinsCACTAT	ENSP00000514468.1:p.Ile1023_Val1024delinsHisTyr
ENST00000699600.1:c.3067_3072delinsCACTAT	ENSP00000514469.1:p.Ile1023_Val1024delinsHisTyr
ENST00000699601.1:c.*1367_*1372delinsCACTAT	ENSP00000514470.1:n.*1367_*1372delinsCACTAT
ENST00000699602.1:c.3067_3072delinsCACTAT	ENSP00000514471.1:p.Ile1023_Val1024delinsHisTyr
ENST00000699604.1:c.*2891_*2896delinsCACTAT	ENSP00000514472.1:n.*2891_*2896delinsCACTAT
ENST00000699605.1:c.2641_2646delinsCACTAT	ENSP00000514473.1:p.Ile881_Val882delinsHisTyr
ENST00000687278.1:c.658_663delinsCACTAT	ENSP00000509593.1:p.Ile220_Val221delinsHisTyr
ENST00000003084.11:c.3067_3072delinsCACTAT MANE Select	ENSP00000003084.6:p.Ile1023_Val1024delinsHisTyr
ENST00000647720.1:c.717_722delinsCACTAT
ENST00000648260.1:c.1849_1854delinsCACTAT	ENSP00000497957.1:p.Ile617_Val618delinsHisTyr
ENST00000649406.1:c.2884_2889delinsCACTAT	ENSP00000497965.1:p.Ile962_Val963delinsHisTyr
ENST00000649781.1:c.2884_2889delinsCACTAT	ENSP00000497203.1:p.Ile962_Val963delinsHisTyr
ENST00000003084.10:c.3067_3072delinsCACTAT	ENSP00000003084.6:p.Ile1023_Val1024delinsHisTyr
ENST00000426809.5:c.2977_2982delinsCACTAT	ENSP00000389119.1:p.Ile993_Val994delinsHisTyr
NM_000492.3:c.3067_3072delinsCACTAT , LRG_663t1:c.3067_3072delinsCACTAT	NP_000483.3:p.Ile1023_Val1024delinsHisTyr
XM_011515751.1:c.3157_3162delinsCACTAT	XP_011514053.1:p.Ile1053_Val1054delinsHisTyr
XM_011515752.1:c.3157_3162delinsCACTAT	XP_011514054.1:p.Ile1053_Val1054delinsHisTyr
XM_011515753.1:c.2824_2829delinsCACTAT	XP_011514055.1:p.Ile942_Val943delinsHisTyr
XM_011515754.1:c.2824_2829delinsCACTAT	XP_011514056.1:p.Ile942_Val943delinsHisTyr
NM_000492.4:c.3067_3072delinsCACTAT MANE Select	NP_000483.3:p.Ile1023_Val1024delinsHisTyr