Canonical Allele Identifier: CA1737421757

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664705_117664708delinsGATA , CM000669.2:g.117664705_117664708delinsGATA	GRCh38
NC_000007.13:g.117304759_117304762delinsGATA , CM000669.1:g.117304759_117304762delinsGATA	GRCh37
NC_000007.12:g.117091995_117091998delinsGATA	NCBI36
NG_016465.4:g.203922_203925delinsGATA , LRG_663:g.203922_203925delinsGATA

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*190_*193delinsGATA	ENSP00000497673.2:n.*190_*193delinsGATA
ENST00000647978.2:c.*3695_*3698delinsGATA	ENSP00000497658.1:n.*3695_*3698delinsGATA...
ENST00000649781.2:c.3798_3801delinsGATA	ENSP00000497203.1:p.Val1266=
ENST00000685018.2:c.*194_*197delinsGATA	ENSP00000510194.2:n.*194_*197delinsGATA
ENST00000687278.2:c.*634_*637delinsGATA	ENSP00000509593.2:n.*634_*637delinsGATA
ENST00000699585.1:c.*190_*193delinsGATA	ENSP00000514456.1:n.*190_*193delinsGATA
ENST00000699598.1:c.3981_3984delinsGATA	ENSP00000514467.1:p.Val1327=
ENST00000699599.1:c.*194_*197delinsGATA	ENSP00000514468.1:n.*194_*197delinsGATA
ENST00000699600.1:c.*642_*645delinsGATA	ENSP00000514469.1:n.*642_*645delinsGATA
ENST00000699601.1:c.*2356_*2359delinsGATA	ENSP00000514470.1:n.*2356_*2359delinsGATA...
ENST00000699602.1:c.3975_3978delinsGATA	ENSP00000514471.1:p.Val1325=
ENST00000699604.1:c.*3805_*3808delinsGATA	ENSP00000514472.1:n.*3805_*3808delinsGATA...
ENST00000699605.1:c.3555_3558delinsGATA	ENSP00000514473.1:p.Val1185=
ENST00000699606.1:n.2149_2152delinsGATA
ENST00000685018.1:c.845_848delinsGATA	ENSP00000510194.1:n.845_848delinsGATA
ENST00000687278.1:c.1768_1771delinsGATA	ENSP00000509593.1:n.1768_1771delinsGATA
ENST00000689011.1:c.563_566delinsGATA
ENST00000003084.11:c.3981_3984delinsGATA MANE Select	ENSP00000003084.6:p.Val1327=
ENST00000647720.1:c.1431_1434delinsGATA
ENST00000649781.1:c.3798_3801delinsGATA	ENSP00000497203.1:p.Val1266=
ENST00000003084.10:c.3981_3984delinsGATA	ENSP00000003084.6:p.Val1327=
ENST00000426809.5:c.3891_3894delinsGATA	ENSP00000389119.1:p.Val1297=
ENST00000600166.1:c.107_110delinsGATA
NM_000492.3:c.3981_3984delinsGATA , LRG_663t1:c.3981_3984delinsGATA	NP_000483.3:p.Val1327=
XM_011515751.1:c.4071_4074delinsGATA	XP_011514053.1:p.Val1357=
XM_011515752.1:c.4071_4074delinsGATA	XP_011514054.1:p.Val1357=
XM_011515753.1:c.3738_3741delinsGATA	XP_011514055.1:p.Val1246=
XM_011515754.1:c.3738_3741delinsGATA	XP_011514056.1:p.Val1246=
NM_000492.4:c.3981_3984delinsGATA MANE Select	NP_000483.3:p.Val1327=