Canonical Allele Identifier: CA915945447

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642461_117642462insATCAG , CM000669.2:g.117642461_117642462insATCAG	GRCh38
NC_000007.13:g.117282515_117282516insATCAG , CM000669.1:g.117282515_117282516insATCAG	GRCh37
NC_000007.12:g.117069751_117069752insATCAG	NCBI36
NG_016465.4:g.181678_181679insATCAG , LRG_663:g.181678_181679insATCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3541_3542insATCAG	ENSP00000497673.2:p.Ile1181AsnfsTer?
ENST00000647978.2:c.*3455_*3456insATCAG	ENSP00000497658.1:n.*3455_*3456insATCAG
ENST00000649781.2:c.3558_3559insATCAG	ENSP00000497203.1:p.Ser1187IlefsTer13
ENST00000685018.2:c.3741_3742insATCAG	ENSP00000510194.2:p.Ser1248IlefsTer13
ENST00000687278.2:c.*394_*395insATCAG	ENSP00000509593.2:n.*394_*395insATCAG
ENST00000699585.1:c.3541_3542insATCAG	ENSP00000514456.1:p.Ile1181AsnfsTer?
ENST00000699598.1:c.3741_3742insATCAG	ENSP00000514467.1:p.Ser1248IlefsTer13
ENST00000699599.1:c.3741_3742insATCAG	ENSP00000514468.1:p.Ser1248IlefsTer13
ENST00000699600.1:c.*402_*403insATCAG	ENSP00000514469.1:n.*402_*403insATCAG
ENST00000699601.1:c.*2116_*2117insATCAG	ENSP00000514470.1:n.*2116_*2117insATCAG
ENST00000699602.1:c.3735_3736insATCAG	ENSP00000514471.1:p.Ser1246IlefsTer13
ENST00000699604.1:c.*3565_*3566insATCAG	ENSP00000514472.1:n.*3565_*3566insATCAG
ENST00000699605.1:c.3315_3316insATCAG	ENSP00000514473.1:p.Ser1106IlefsTer13
ENST00000685018.1:c.489_490insATCAG	ENSP00000510194.1:p.Ser164IlefsTer13
ENST00000687278.1:c.1528_1529insATCAG	ENSP00000509593.1:n.1528_1529insATCAG
ENST00000689011.1:c.323_324insATCAG
ENST00000003084.11:c.3741_3742insATCAG MANE Select	ENSP00000003084.6:p.Ser1248IlefsTer13
ENST00000647720.1:c.1191_1192insATCAG
ENST00000649781.1:c.3558_3559insATCAG	ENSP00000497203.1:p.Ser1187IlefsTer13
ENST00000003084.10:c.3741_3742insATCAG	ENSP00000003084.6:p.Ser1248IlefsTer13
ENST00000426809.5:c.3651_3652insATCAG	ENSP00000389119.1:p.Ser1218IlefsTer13
NM_000492.3:c.3741_3742insATCAG , LRG_663t1:c.3741_3742insATCAG	NP_000483.3:p.Ser1248IlefsTer13
XM_011515751.1:c.3831_3832insATCAG	XP_011514053.1:p.Ser1278IlefsTer13
XM_011515752.1:c.3831_3832insATCAG	XP_011514054.1:p.Ser1278IlefsTer13
XM_011515753.1:c.3498_3499insATCAG	XP_011514055.1:p.Ser1167IlefsTer13
XM_011515754.1:c.3498_3499insATCAG	XP_011514056.1:p.Ser1167IlefsTer13
NM_000492.4:c.3741_3742insATCAG MANE Select	NP_000483.3:p.Ser1248IlefsTer13