Canonical Allele Identifier: CA2695208299

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117534368_117534369insCATA , CM000669.2:g.117534368_117534369insCATA	GRCh38
NC_000007.13:g.117174422_117174423insCATA , CM000669.1:g.117174422_117174423insCATA	GRCh37
NC_000007.12:g.116961658_116961659insCATA	NCBI36
NG_016465.4:g.73585_73586insCATA , LRG_663:g.73585_73586insCATA

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.579+3_579+4insCATA	ENSP00000497673.2:n.579+3_579+4insCATA
ENST00000647978.2:c.*476+3_*476+4insCATA	ENSP00000497658.1:n.*476+3_*476+4insCATA
ENST00000649781.2:c.579+3_579+4insCATA	ENSP00000497203.1:n.579+3_579+4insCATA
ENST00000685018.2:c.579+3_579+4insCATA	ENSP00000510194.2:n.579+3_579+4insCATA
ENST00000687278.2:c.579+3_579+4insCATA	ENSP00000509593.2:n.579+3_579+4insCATA
ENST00000699585.1:c.579+3_579+4insCATA	ENSP00000514456.1:n.579+3_579+4insCATA
ENST00000699596.1:c.579+3_579+4insCATA	ENSP00000514465.1:n.579+3_579+4insCATA
ENST00000699597.1:c.579+3_579+4insCATA	ENSP00000514466.1:n.579+3_579+4insCATA
ENST00000699598.1:c.579+3_579+4insCATA	ENSP00000514467.1:n.579+3_579+4insCATA
ENST00000699599.1:c.579+3_579+4insCATA	ENSP00000514468.1:n.579+3_579+4insCATA
ENST00000699600.1:c.579+3_579+4insCATA	ENSP00000514469.1:n.579+3_579+4insCATA
ENST00000699601.1:c.579+3_579+4insCATA	ENSP00000514470.1:n.579+3_579+4insCATA
ENST00000699602.1:c.579+3_579+4insCATA	ENSP00000514471.1:n.579+3_579+4insCATA
ENST00000699604.1:c.*403+3_*403+4insCATA	ENSP00000514472.1:n.*403+3_*403+4insCATA
ENST00000699605.1:c.336+3_336+4insCATA	ENSP00000514473.1:n.336+3_336+4insCATA
ENST00000003084.11:c.579+3_579+4insCATA MANE Select	ENSP00000003084.6:n.579+3_579+4insCATA
ENST00000647978.1:c.*476+3_*476+4insCATA	ENSP00000497658.1:n.*476+3_*476+4insCATA
ENST00000648260.1:c.579+3_579+4insCATA	ENSP00000497957.1:n.579+3_579+4insCATA
ENST00000649406.1:c.579+3_579+4insCATA	ENSP00000497965.1:n.579+3_579+4insCATA
ENST00000649781.1:c.579+3_579+4insCATA	ENSP00000497203.1:n.579+3_579+4insCATA
ENST00000673785.1:c.336+3_336+4insCATA	ENSP00000501235.1:n.336+3_336+4insCATA
ENST00000003084.10:c.579+3_579+4insCATA	ENSP00000003084.6:n.579+3_579+4insCATA
ENST00000426809.5:c.490-880_490-879insCATA	ENSP00000389119.1:n.490-880_490-879insCAT...
NM_000492.3:c.579+3_579+4insCATA , LRG_663t1:c.579+3_579+4insCATA	NP_000483.3:n.579+3_579+4insCATA
XM_011515751.1:c.669+3_669+4insCATA	XP_011514053.1:n.669+3_669+4insCATA
XM_011515752.1:c.669+3_669+4insCATA	XP_011514054.1:n.669+3_669+4insCATA
XM_011515753.1:c.336+3_336+4insCATA	XP_011514055.1:n.336+3_336+4insCATA
XM_011515754.1:c.336+3_336+4insCATA	XP_011514056.1:n.336+3_336+4insCATA
NM_000492.4:c.579+3_579+4insCATA MANE Select	NP_000483.3:n.579+3_579+4insCATA