Canonical Allele Identifier: CA1737395339

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592537_117592543delinsCACACGA , CM000669.2:g.117592537_117592543delinsCACACGA	GRCh38
NC_000007.13:g.117232591_117232597delinsCACACGA , CM000669.1:g.117232591_117232597delinsCACACGA	GRCh37
NC_000007.12:g.117019827_117019833delinsCACACGA	NCBI36
NG_016465.4:g.131754_131760delinsCACACGA , LRG_663:g.131754_131760delinsCACACGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2370_2376delinsCACACGA	ENSP00000497673.2:p.Ser790=
ENST00000647978.2:c.*2084_*2090delinsCACACGA	ENSP00000497658.1:n.*2084_*2090delinsCACA...
ENST00000649781.2:c.2187_2193delinsCACACGA	ENSP00000497203.1:p.Ser729=
ENST00000685018.2:c.2370_2376delinsCACACGA	ENSP00000510194.2:p.Ser790=
ENST00000687278.2:c.2370_2376delinsCACACGA	ENSP00000509593.2:p.Ser790=
ENST00000699585.1:c.2370_2376delinsCACACGA	ENSP00000514456.1:p.Ser790=
ENST00000699598.1:c.2370_2376delinsCACACGA	ENSP00000514467.1:p.Ser790=
ENST00000699599.1:c.2370_2376delinsCACACGA	ENSP00000514468.1:p.Ser790=
ENST00000699600.1:c.2370_2376delinsCACACGA	ENSP00000514469.1:p.Ser790=
ENST00000699601.1:c.*670_*676delinsCACACGA	ENSP00000514470.1:n.*670_*676delinsCACACG...
ENST00000699602.1:c.2370_2376delinsCACACGA	ENSP00000514471.1:p.Ser790=
ENST00000699604.1:c.*2194_*2200delinsCACACGA	ENSP00000514472.1:n.*2194_*2200delinsCACA...
ENST00000699605.1:c.1944_1950delinsCACACGA	ENSP00000514473.1:p.Ser648=
ENST00000003084.11:c.2370_2376delinsCACACGA MANE Select	ENSP00000003084.6:p.Ser790=
ENST00000647720.1:c.20_26delinsCACACGA
ENST00000647978.1:c.*2084_*2090delinsCACACGA	ENSP00000497658.1:n.*2084_*2090delinsCACA...
ENST00000648260.1:c.1402-10289_1402-10283delinsCACACGA	ENSP00000497957.1:n.1402-10289_1402-10283...
ENST00000649406.1:c.2187_2193delinsCACACGA	ENSP00000497965.1:p.Ser729=
ENST00000649781.1:c.2187_2193delinsCACACGA	ENSP00000497203.1:p.Ser729=
ENST00000003084.10:c.2370_2376delinsCACACGA	ENSP00000003084.6:p.Ser790=
ENST00000426809.5:c.2280_2286delinsCACACGA	ENSP00000389119.1:p.Ser760=
NM_000492.3:c.2370_2376delinsCACACGA , LRG_663t1:c.2370_2376delinsCACACGA	NP_000483.3:p.Ser790=
XM_011515751.1:c.2460_2466delinsCACACGA	XP_011514053.1:p.Ser820=
XM_011515752.1:c.2460_2466delinsCACACGA	XP_011514054.1:p.Ser820=
XM_011515753.1:c.2127_2133delinsCACACGA	XP_011514055.1:p.Ser709=
XM_011515754.1:c.2127_2133delinsCACACGA	XP_011514056.1:p.Ser709=
NM_000492.4:c.2370_2376delinsCACACGA MANE Select	NP_000483.3:p.Ser790=