Canonical Allele Identifier: CA1737404790

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642547_117642548delinsCA , CM000669.2:g.117642547_117642548delinsCA	GRCh38
NC_000007.13:g.117282601_117282602delinsCA , CM000669.1:g.117282601_117282602delinsCA	GRCh37
NC_000007.12:g.117069837_117069838delinsCA	NCBI36
NG_016465.4:g.181764_181765delinsCA , LRG_663:g.181764_181765delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*36_*37delinsCA	ENSP00000497673.2:n.*36_*37delinsCA
ENST00000647978.2:c.*3541_*3542delinsCA	ENSP00000497658.1:n.*3541_*3542delinsCA
ENST00000649781.2:c.3644_3645delinsCA	ENSP00000497203.1:p.Ser1215=
ENST00000685018.2:c.3827_3828delinsCA	ENSP00000510194.2:p.Ser1276=
ENST00000687278.2:c.*480_*481delinsCA	ENSP00000509593.2:n.*480_*481delinsCA
ENST00000699585.1:c.*36_*37delinsCA	ENSP00000514456.1:n.*36_*37delinsCA
ENST00000699598.1:c.3827_3828delinsCA	ENSP00000514467.1:p.Ser1276=
ENST00000699599.1:c.3827_3828delinsCA	ENSP00000514468.1:p.Ser1276=
ENST00000699600.1:c.*488_*489delinsCA	ENSP00000514469.1:n.*488_*489delinsCA
ENST00000699601.1:c.*2202_*2203delinsCA	ENSP00000514470.1:n.*2202_*2203delinsCA
ENST00000699602.1:c.3821_3822delinsCA	ENSP00000514471.1:p.Ser1274=
ENST00000699604.1:c.*3651_*3652delinsCA	ENSP00000514472.1:n.*3651_*3652delinsCA
ENST00000699605.1:c.3401_3402delinsCA	ENSP00000514473.1:p.Ser1134=
ENST00000685018.1:c.575_576delinsCA	ENSP00000510194.1:p.Ser192=
ENST00000687278.1:c.1614_1615delinsCA	ENSP00000509593.1:n.1614_1615delinsCA
ENST00000689011.1:c.409_410delinsCA
ENST00000003084.11:c.3827_3828delinsCA MANE Select	ENSP00000003084.6:p.Ser1276=
ENST00000647720.1:c.1277_1278delinsCA
ENST00000649781.1:c.3644_3645delinsCA	ENSP00000497203.1:p.Ser1215=
ENST00000003084.10:c.3827_3828delinsCA	ENSP00000003084.6:p.Ser1276=
ENST00000426809.5:c.3737_3738delinsCA	ENSP00000389119.1:p.Ser1246=
NM_000492.3:c.3827_3828delinsCA , LRG_663t1:c.3827_3828delinsCA	NP_000483.3:p.Ser1276=
XM_011515751.1:c.3917_3918delinsCA	XP_011514053.1:p.Ser1306=
XM_011515752.1:c.3917_3918delinsCA	XP_011514054.1:p.Ser1306=
XM_011515753.1:c.3584_3585delinsCA	XP_011514055.1:p.Ser1195=
XM_011515754.1:c.3584_3585delinsCA	XP_011514056.1:p.Ser1195=
NM_000492.4:c.3827_3828delinsCA MANE Select	NP_000483.3:p.Ser1276=