Canonical Allele Identifier: CA1737390587
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117587823_117587824delinsTC , CM000669.2:g.117587823_117587824delinsTC GRCh38
NC_000007.13:g.117227877_117227878delinsTC , CM000669.1:g.117227877_117227878delinsTC GRCh37
NC_000007.12:g.117015113_117015114delinsTC NCBI36
NG_016465.4:g.127040_127041delinsTC , LRG_663:g.127040_127041delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.1669_1670delinsTC ENSP00000497673.2:p.Ser557=
ENST00000647978.2:c.*1383_*1384delinsTC ENSP00000497658.1:n.*1383_*1384delinsTC
ENST00000649781.2:c.1486_1487delinsTC ENSP00000497203.1:p.Ser496=
ENST00000685018.2:c.1669_1670delinsTC ENSP00000510194.2:p.Ser557=
ENST00000687278.2:c.1669_1670delinsTC ENSP00000509593.2:p.Ser557=
ENST00000699585.1:c.1669_1670delinsTC ENSP00000514456.1:p.Ser557=
ENST00000699598.1:c.1669_1670delinsTC ENSP00000514467.1:p.Ser557=
ENST00000699599.1:c.1669_1670delinsTC ENSP00000514468.1:p.Ser557=
ENST00000699600.1:c.1669_1670delinsTC ENSP00000514469.1:p.Ser557=
ENST00000699601.1:c.1669_1670delinsTC ENSP00000514470.1:p.Ser557=
ENST00000699602.1:c.1669_1670delinsTC ENSP00000514471.1:p.Ser557=
ENST00000699604.1:c.*1493_*1494delinsTC ENSP00000514472.1:n.*1493_*1494delinsTC
ENST00000699605.1:c.1243_1244delinsTC ENSP00000514473.1:p.Ser415=
ENST00000003084.11:c.1669_1670delinsTC MANE Select ENSP00000003084.6:p.Ser557=
ENST00000647978.1:c.*1383_*1384delinsTC ENSP00000497658.1:n.*1383_*1384delinsTC
ENST00000648260.1:c.1402-15003_1402-15002delinsTC ENSP00000497957.1:n.1402-15003_1402-15002delinsTC
ENST00000649406.1:c.1486_1487delinsTC ENSP00000497965.1:p.Ser496=
ENST00000649781.1:c.1486_1487delinsTC ENSP00000497203.1:p.Ser496=
ENST00000003084.10:c.1669_1670delinsTC ENSP00000003084.6:p.Ser557=
ENST00000426809.5:c.1579_1580delinsTC ENSP00000389119.1:p.Ser527=
NM_000492.3:c.1669_1670delinsTC , LRG_663t1:c.1669_1670delinsTC NP_000483.3:p.Ser557=
XM_011515751.1:c.1759_1760delinsTC XP_011514053.1:p.Ser587=
XM_011515752.1:c.1759_1760delinsTC XP_011514054.1:p.Ser587=
XM_011515753.1:c.1426_1427delinsTC XP_011514055.1:p.Ser476=
XM_011515754.1:c.1426_1427delinsTC XP_011514056.1:p.Ser476=
NM_000492.4:c.1669_1670delinsTC MANE Select NP_000483.3:p.Ser557=