Canonical Allele Identifier: CA1737392033

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117614649_117614665delinsTAGCCATGAATATCATG , CM000669.2:g.117614649_117614665delinsTAGCCATGAATATCATG	GRCh38
NC_000007.13:g.117254703_117254719delinsTAGCCATGAATATCATG , CM000669.1:g.117254703_117254719delinsTAGCCATGAATATCATG	GRCh37
NC_000007.12:g.117041939_117041955delinsTAGCCATGAATATCATG	NCBI36
NG_016465.4:g.153866_153882delinsTAGCCATGAATATCATG , LRG_663:g.153866_153882delinsTAGCCATGAATATCATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3404_3420delinsTAGCCATGAATATCATG	ENSP00000497673.2:p.Leu1135=
ENST00000647978.2:c.*3118_*3134delinsTAGCCATGAATATCATG	ENSP00000497658.1:n.*3118_*3134delinsTAGCCATGAATATCATG
ENST00000649781.2:c.3221_3237delinsTAGCCATGAATATCATG	ENSP00000497203.1:p.Leu1074=
ENST00000685018.2:c.3404_3420delinsTAGCCATGAATATCATG	ENSP00000510194.2:p.Leu1135=
ENST00000687278.2:c.3404_3420delinsTAGCCATGAATATCATG	ENSP00000509593.2:p.Leu1135=
ENST00000699585.1:c.3404_3420delinsTAGCCATGAATATCATG	ENSP00000514456.1:p.Leu1135=
ENST00000699598.1:c.3404_3420delinsTAGCCATGAATATCATG	ENSP00000514467.1:p.Leu1135=
ENST00000699599.1:c.3404_3420delinsTAGCCATGAATATCATG	ENSP00000514468.1:p.Leu1135=
ENST00000699600.1:c.3404_3420delinsTAGCCATGAATATCATG	ENSP00000514469.1:p.Leu1135=
ENST00000699601.1:c.*1779_*1795delinsTAGCCATGAATATCATG	ENSP00000514470.1:n.*1779_*1795delinsTAGCCATGAATATCATG
ENST00000699602.1:c.3398_3414delinsTAGCCATGAATATCATG	ENSP00000514471.1:p.Leu1133=
ENST00000699604.1:c.*3228_*3244delinsTAGCCATGAATATCATG	ENSP00000514472.1:n.*3228_*3244delinsTAGCCATGAATATCATG
ENST00000699605.1:c.2978_2994delinsTAGCCATGAATATCATG	ENSP00000514473.1:p.Leu993=
ENST00000685018.1:c.152_168delinsTAGCCATGAATATCATG	ENSP00000510194.1:p.Leu51=
ENST00000687278.1:c.995_1011delinsTAGCCATGAATATCATG	ENSP00000509593.1:p.Leu332=
ENST00000003084.11:c.3404_3420delinsTAGCCATGAATATCATG MANE Select	ENSP00000003084.6:p.Leu1135=
ENST00000647720.1:c.1054_1070delinsTAGCCATGAATATCATG
ENST00000648260.1:c.2186_2202delinsTAGCCATGAATATCATG	ENSP00000497957.1:p.Leu729=
ENST00000649406.1:c.3221_3237delinsTAGCCATGAATATCATG	ENSP00000497965.1:p.Leu1074=
ENST00000649781.1:c.3221_3237delinsTAGCCATGAATATCATG	ENSP00000497203.1:p.Leu1074=
ENST00000003084.10:c.3404_3420delinsTAGCCATGAATATCATG	ENSP00000003084.6:p.Leu1135=
ENST00000426809.5:c.3314_3330delinsTAGCCATGAATATCATG	ENSP00000389119.1:p.Leu1105=
ENST00000468795.1:c.229_245delinsTAGCCATGAATATCATG
NM_000492.3:c.3404_3420delinsTAGCCATGAATATCATG , LRG_663t1:c.3404_3420delinsTAGCCATGAATATCATG	NP_000483.3:p.Leu1135=
XM_011515751.1:c.3494_3510delinsTAGCCATGAATATCATG	XP_011514053.1:p.Leu1165=
XM_011515752.1:c.3494_3510delinsTAGCCATGAATATCATG	XP_011514054.1:p.Leu1165=
XM_011515753.1:c.3161_3177delinsTAGCCATGAATATCATG	XP_011514055.1:p.Leu1054=
XM_011515754.1:c.3161_3177delinsTAGCCATGAATATCATG	XP_011514056.1:p.Leu1054=
NM_000492.4:c.3404_3420delinsTAGCCATGAATATCATG MANE Select	NP_000483.3:p.Leu1135=