Canonical Allele Identifier: CA1737411138

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117652870_117652871delinsGA , CM000669.2:g.117652870_117652871delinsGA	GRCh38
NC_000007.13:g.117292924_117292925delinsGA , CM000669.1:g.117292924_117292925delinsGA	GRCh37
NC_000007.12:g.117080160_117080161delinsGA	NCBI36
NG_016465.4:g.192087_192088delinsGA , LRG_663:g.192087_192088delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*111_*112delinsGA	ENSP00000497673.2:n.*111_*112delinsGA
ENST00000647978.2:c.*3616_*3617delinsGA	ENSP00000497658.1:n.*3616_*3617delinsGA
ENST00000649781.2:c.3719_3720delinsGA	ENSP00000497203.1:p.Arg1240=
ENST00000685018.2:c.*115_*116delinsGA	ENSP00000510194.2:n.*115_*116delinsGA
ENST00000687278.2:c.*555_*556delinsGA	ENSP00000509593.2:n.*555_*556delinsGA
ENST00000699585.1:c.*111_*112delinsGA	ENSP00000514456.1:n.*111_*112delinsGA
ENST00000699598.1:c.3902_3903delinsGA	ENSP00000514467.1:p.Arg1301=
ENST00000699599.1:c.*115_*116delinsGA	ENSP00000514468.1:n.*115_*116delinsGA
ENST00000699600.1:c.*563_*564delinsGA	ENSP00000514469.1:n.*563_*564delinsGA
ENST00000699601.1:c.*2277_*2278delinsGA	ENSP00000514470.1:n.*2277_*2278delinsGA
ENST00000699602.1:c.3896_3897delinsGA	ENSP00000514471.1:p.Arg1299=
ENST00000699604.1:c.*3726_*3727delinsGA	ENSP00000514472.1:n.*3726_*3727delinsGA
ENST00000699605.1:c.3476_3477delinsGA	ENSP00000514473.1:p.Arg1159=
ENST00000699606.1:n.2070_2071delinsGA
ENST00000685018.1:c.766_767delinsGA	ENSP00000510194.1:n.766_767delinsGA
ENST00000687278.1:c.1689_1690delinsGA	ENSP00000509593.1:n.1689_1690delinsGA
ENST00000689011.1:c.484_485delinsGA
ENST00000003084.11:c.3902_3903delinsGA MANE Select	ENSP00000003084.6:p.Arg1301=
ENST00000647720.1:c.1352_1353delinsGA
ENST00000649781.1:c.3719_3720delinsGA	ENSP00000497203.1:p.Arg1240=
ENST00000003084.10:c.3902_3903delinsGA	ENSP00000003084.6:p.Arg1301=
ENST00000426809.5:c.3812_3813delinsGA	ENSP00000389119.1:p.Arg1271=
ENST00000600166.1:c.28_29delinsGA
NM_000492.3:c.3902_3903delinsGA , LRG_663t1:c.3902_3903delinsGA	NP_000483.3:p.Arg1301=
XM_011515751.1:c.3992_3993delinsGA	XP_011514053.1:p.Arg1331=
XM_011515752.1:c.3992_3993delinsGA	XP_011514054.1:p.Arg1331=
XM_011515753.1:c.3659_3660delinsGA	XP_011514055.1:p.Arg1220=
XM_011515754.1:c.3659_3660delinsGA	XP_011514056.1:p.Arg1220=
NM_000492.4:c.3902_3903delinsGA MANE Select	NP_000483.3:p.Arg1301=