Canonical Allele Identifier: CA1737404742
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117642464_117642465delinsAG , CM000669.2:g.117642464_117642465delinsAG GRCh38
NC_000007.13:g.117282518_117282519delinsAG , CM000669.1:g.117282518_117282519delinsAG GRCh37
NC_000007.12:g.117069754_117069755delinsAG NCBI36
NG_016465.4:g.181681_181682delinsAG , LRG_663:g.181681_181682delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.3544_3545delinsAG ENSP00000497673.2:p.Arg1182=
ENST00000647978.2:c.*3458_*3459delinsAG ENSP00000497658.1:n.*3458_*3459delinsAG
ENST00000649781.2:c.3561_3562delinsAG ENSP00000497203.1:p.Ser1187=
ENST00000685018.2:c.3744_3745delinsAG ENSP00000510194.2:p.Ser1248=
ENST00000687278.2:c.*397_*398delinsAG ENSP00000509593.2:n.*397_*398delinsAG
ENST00000699585.1:c.3544_3545delinsAG ENSP00000514456.1:p.Arg1182=
ENST00000699598.1:c.3744_3745delinsAG ENSP00000514467.1:p.Ser1248=
ENST00000699599.1:c.3744_3745delinsAG ENSP00000514468.1:p.Ser1248=
ENST00000699600.1:c.*405_*406delinsAG ENSP00000514469.1:n.*405_*406delinsAG
ENST00000699601.1:c.*2119_*2120delinsAG ENSP00000514470.1:n.*2119_*2120delinsAG
ENST00000699602.1:c.3738_3739delinsAG ENSP00000514471.1:p.Ser1246=
ENST00000699604.1:c.*3568_*3569delinsAG ENSP00000514472.1:n.*3568_*3569delinsAG
ENST00000699605.1:c.3318_3319delinsAG ENSP00000514473.1:p.Ser1106=
ENST00000685018.1:c.492_493delinsAG ENSP00000510194.1:p.Ser164=
ENST00000687278.1:c.1531_1532delinsAG ENSP00000509593.1:n.1531_1532delinsAG
ENST00000689011.1:c.326_327delinsAG
ENST00000003084.11:c.3744_3745delinsAG MANE Select ENSP00000003084.6:p.Ser1248=
ENST00000647720.1:c.1194_1195delinsAG
ENST00000649781.1:c.3561_3562delinsAG ENSP00000497203.1:p.Ser1187=
ENST00000003084.10:c.3744_3745delinsAG ENSP00000003084.6:p.Ser1248=
ENST00000426809.5:c.3654_3655delinsAG ENSP00000389119.1:p.Ser1218=
NM_000492.3:c.3744_3745delinsAG , LRG_663t1:c.3744_3745delinsAG NP_000483.3:p.Ser1248=
XM_011515751.1:c.3834_3835delinsAG XP_011514053.1:p.Ser1278=
XM_011515752.1:c.3834_3835delinsAG XP_011514054.1:p.Ser1278=
XM_011515753.1:c.3501_3502delinsAG XP_011514055.1:p.Ser1167=
XM_011515754.1:c.3501_3502delinsAG XP_011514056.1:p.Ser1167=
NM_000492.4:c.3744_3745delinsAG MANE Select NP_000483.3:p.Ser1248=