Canonical Allele Identifier: CA1737390509
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117587804_117587805delinsAG , CM000669.2:g.117587804_117587805delinsAG GRCh38
NC_000007.13:g.117227858_117227859delinsAG , CM000669.1:g.117227858_117227859delinsAG GRCh37
NC_000007.12:g.117015094_117015095delinsAG NCBI36
NG_016465.4:g.127021_127022delinsAG , LRG_663:g.127021_127022delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.1650_1651delinsAG ENSP00000497673.2:p.Gly550=
ENST00000647978.2:c.*1364_*1365delinsAG ENSP00000497658.1:n.*1364_*1365delinsAG
ENST00000649781.2:c.1467_1468delinsAG ENSP00000497203.1:p.Gly489=
ENST00000685018.2:c.1650_1651delinsAG ENSP00000510194.2:p.Gly550=
ENST00000687278.2:c.1650_1651delinsAG ENSP00000509593.2:p.Gly550=
ENST00000699585.1:c.1650_1651delinsAG ENSP00000514456.1:p.Gly550=
ENST00000699598.1:c.1650_1651delinsAG ENSP00000514467.1:p.Gly550=
ENST00000699599.1:c.1650_1651delinsAG ENSP00000514468.1:p.Gly550=
ENST00000699600.1:c.1650_1651delinsAG ENSP00000514469.1:p.Gly550=
ENST00000699601.1:c.1650_1651delinsAG ENSP00000514470.1:p.Gly550=
ENST00000699602.1:c.1650_1651delinsAG ENSP00000514471.1:p.Gly550=
ENST00000699604.1:c.*1474_*1475delinsAG ENSP00000514472.1:n.*1474_*1475delinsAG
ENST00000699605.1:c.1224_1225delinsAG ENSP00000514473.1:p.Gly408=
ENST00000003084.11:c.1650_1651delinsAG MANE Select ENSP00000003084.6:p.Gly550=
ENST00000647978.1:c.*1364_*1365delinsAG ENSP00000497658.1:n.*1364_*1365delinsAG
ENST00000648260.1:c.1402-15022_1402-15021delinsAG ENSP00000497957.1:n.1402-15022_1402-15021delinsAG
ENST00000649406.1:c.1467_1468delinsAG ENSP00000497965.1:p.Gly489=
ENST00000649781.1:c.1467_1468delinsAG ENSP00000497203.1:p.Gly489=
ENST00000003084.10:c.1650_1651delinsAG ENSP00000003084.6:p.Gly550=
ENST00000426809.5:c.1560_1561delinsAG ENSP00000389119.1:p.Gly520=
NM_000492.3:c.1650_1651delinsAG , LRG_663t1:c.1650_1651delinsAG NP_000483.3:p.Gly550=
XM_011515751.1:c.1740_1741delinsAG XP_011514053.1:p.Gly580=
XM_011515752.1:c.1740_1741delinsAG XP_011514054.1:p.Gly580=
XM_011515753.1:c.1407_1408delinsAG XP_011514055.1:p.Gly469=
XM_011515754.1:c.1407_1408delinsAG XP_011514056.1:p.Gly469=
NM_000492.4:c.1650_1651delinsAG MANE Select NP_000483.3:p.Gly550=