Canonical Allele Identifier: CA2740880945

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117534280_117534281insTTTT , CM000669.2:g.117534280_117534281insTTTT	GRCh38
NC_000007.13:g.117174334_117174335insTTTT , CM000669.1:g.117174334_117174335insTTTT	GRCh37
NC_000007.12:g.116961570_116961571insTTTT	NCBI36
NG_016465.4:g.73497_73498insTTTT , LRG_663:g.73497_73498insTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.494_495insTTTT	ENSP00000497673.2:p.Leu165PhefsTer11
ENST00000647978.2:c.*391_*392insTTTT	ENSP00000497658.1:n.*391_*392insTTTT
ENST00000649781.2:c.494_495insTTTT	ENSP00000497203.1:p.Leu165PhefsTer11
ENST00000685018.2:c.494_495insTTTT	ENSP00000510194.2:p.Leu165PhefsTer11
ENST00000687278.2:c.494_495insTTTT	ENSP00000509593.2:p.Leu165PhefsTer11
ENST00000699585.1:c.494_495insTTTT	ENSP00000514456.1:p.Leu165PhefsTer11
ENST00000699596.1:c.494_495insTTTT	ENSP00000514465.1:p.Leu165PhefsTer11
ENST00000699597.1:c.494_495insTTTT	ENSP00000514466.1:p.Leu165PhefsTer11
ENST00000699598.1:c.494_495insTTTT	ENSP00000514467.1:p.Leu165PhefsTer11
ENST00000699599.1:c.494_495insTTTT	ENSP00000514468.1:p.Leu165PhefsTer11
ENST00000699600.1:c.494_495insTTTT	ENSP00000514469.1:p.Leu165PhefsTer11
ENST00000699601.1:c.494_495insTTTT	ENSP00000514470.1:p.Leu165PhefsTer11
ENST00000699602.1:c.494_495insTTTT	ENSP00000514471.1:p.Leu165PhefsTer11
ENST00000699604.1:c.*318_*319insTTTT	ENSP00000514472.1:n.*318_*319insTTTT
ENST00000699605.1:c.251_252insTTTT	ENSP00000514473.1:p.Leu84PhefsTer11
ENST00000003084.11:c.494_495insTTTT MANE Select	ENSP00000003084.6:p.Leu165PhefsTer11
ENST00000647978.1:c.*391_*392insTTTT	ENSP00000497658.1:n.*391_*392insTTTT
ENST00000648260.1:c.494_495insTTTT	ENSP00000497957.1:p.Leu165PhefsTer11
ENST00000649406.1:c.494_495insTTTT	ENSP00000497965.1:p.Leu165PhefsTer11
ENST00000649781.1:c.494_495insTTTT	ENSP00000497203.1:p.Leu165PhefsTer11
ENST00000673785.1:c.251_252insTTTT	ENSP00000501235.1:p.Leu84PhefsTer11
ENST00000003084.10:c.494_495insTTTT	ENSP00000003084.6:p.Leu165PhefsTer11
ENST00000426809.5:c.490-968_490-967insTTTT	ENSP00000389119.1:n.490-968_490-967insTTTT
NM_000492.3:c.494_495insTTTT , LRG_663t1:c.494_495insTTTT	NP_000483.3:p.Leu165PhefsTer11
XM_011515751.1:c.584_585insTTTT	XP_011514053.1:p.Leu195PhefsTer11
XM_011515752.1:c.584_585insTTTT	XP_011514054.1:p.Leu195PhefsTer11
XM_011515753.1:c.251_252insTTTT	XP_011514055.1:p.Leu84PhefsTer11
XM_011515754.1:c.251_252insTTTT	XP_011514056.1:p.Leu84PhefsTer11
NM_000492.4:c.494_495insTTTT MANE Select	NP_000483.3:p.Leu165PhefsTer11