Canonical Allele Identifier: CA164965248
Gene: CFTR HGNC NCBI

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_Val1024delins...
ENST00000647978.2:c.*2781_*2786delinsCACTAT ENSP00000497658.1:n.*2781_*2786delinsCACT...
ENST00000649781.2:c.2884_2889delinsCACTAT ENSP00000497203.1:p.Ile962_Val963delinsHi...
ENST00000685018.2:c.3067_3072delinsCACTAT ENSP00000510194.2:p.Ile1023_Val1024delins...
ENST00000687278.2:c.3067_3072delinsCACTAT ENSP00000509593.2:p.Ile1023_Val1024delins...
ENST00000699585.1:c.3067_3072delinsCACTAT ENSP00000514456.1:p.Ile1023_Val1024delins...
ENST00000699598.1:c.3067_3072delinsCACTAT ENSP00000514467.1:p.Ile1023_Val1024delins...
ENST00000699599.1:c.3067_3072delinsCACTAT ENSP00000514468.1:p.Ile1023_Val1024delins...
ENST00000699600.1:c.3067_3072delinsCACTAT ENSP00000514469.1:p.Ile1023_Val1024delins...
ENST00000699601.1:c.*1367_*1372delinsCACTAT ENSP00000514470.1:n.*1367_*1372delinsCACT...
ENST00000699602.1:c.3067_3072delinsCACTAT ENSP00000514471.1:p.Ile1023_Val1024delins...
ENST00000699604.1:c.*2891_*2896delinsCACTAT ENSP00000514472.1:n.*2891_*2896delinsCACT...
ENST00000699605.1:c.2641_2646delinsCACTAT ENSP00000514473.1:p.Ile881_Val882delinsHi...
ENST00000687278.1:c.658_663delinsCACTAT ENSP00000509593.1:p.Ile220_Val221delinsHi...
ENST00000003084.11:c.3067_3072delinsCACTAT MANE Select ENSP00000003084.6:p.Ile1023_Val1024delins...
ENST00000647720.1:c.717_722delinsCACTAT
ENST00000648260.1:c.1849_1854delinsCACTAT ENSP00000497957.1:p.Ile617_Val618delinsHi...
ENST00000649406.1:c.2884_2889delinsCACTAT ENSP00000497965.1:p.Ile962_Val963delinsHi...
ENST00000649781.1:c.2884_2889delinsCACTAT ENSP00000497203.1:p.Ile962_Val963delinsHi...
ENST00000003084.10:c.3067_3072delinsCACTAT ENSP00000003084.6:p.Ile1023_Val1024delins...
ENST00000426809.5:c.2977_2982delinsCACTAT ENSP00000389119.1:p.Ile993_Val994delinsHi...
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_Val1054delinsHis...
XM_011515752.1:c.3157_3162delinsCACTAT XP_011514054.1:p.Ile1053_Val1054delinsHis...
XM_011515753.1:c.2824_2829delinsCACTAT XP_011514055.1:p.Ile942_Val943delinsHisTy...
XM_011515754.1:c.2824_2829delinsCACTAT XP_011514056.1:p.Ile942_Val943delinsHisTy...
NM_000492.4:c.3067_3072delinsCACTAT MANE Select NP_000483.3:p.Ile1023_Val1024delinsHisTyr...