Canonical Allele Identifier: CA1737390533
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117587808_117587809delinsCA , CM000669.2:g.117587808_117587809delinsCA GRCh38
NC_000007.13:g.117227862_117227863delinsCA , CM000669.1:g.117227862_117227863delinsCA GRCh37
NC_000007.12:g.117015098_117015099delinsCA NCBI36
NG_016465.4:g.127025_127026delinsCA , LRG_663:g.127025_127026delinsCA

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.1654_1655delinsCA ENSP00000497673.2:p.Gln552=
ENST00000647978.2:c.*1368_*1369delinsCA ENSP00000497658.1:n.*1368_*1369delinsCA
ENST00000649781.2:c.1471_1472delinsCA ENSP00000497203.1:p.Gln491=
ENST00000685018.2:c.1654_1655delinsCA ENSP00000510194.2:p.Gln552=
ENST00000687278.2:c.1654_1655delinsCA ENSP00000509593.2:p.Gln552=
ENST00000699585.1:c.1654_1655delinsCA ENSP00000514456.1:p.Gln552=
ENST00000699598.1:c.1654_1655delinsCA ENSP00000514467.1:p.Gln552=
ENST00000699599.1:c.1654_1655delinsCA ENSP00000514468.1:p.Gln552=
ENST00000699600.1:c.1654_1655delinsCA ENSP00000514469.1:p.Gln552=
ENST00000699601.1:c.1654_1655delinsCA ENSP00000514470.1:p.Gln552=
ENST00000699602.1:c.1654_1655delinsCA ENSP00000514471.1:p.Gln552=
ENST00000699604.1:c.*1478_*1479delinsCA ENSP00000514472.1:n.*1478_*1479delinsCA
ENST00000699605.1:c.1228_1229delinsCA ENSP00000514473.1:p.Gln410=
ENST00000003084.11:c.1654_1655delinsCA MANE Select ENSP00000003084.6:p.Gln552=
ENST00000647978.1:c.*1368_*1369delinsCA ENSP00000497658.1:n.*1368_*1369delinsCA
ENST00000648260.1:c.1402-15018_1402-15017delinsCA ENSP00000497957.1:n.1402-15018_1402-15017...
ENST00000649406.1:c.1471_1472delinsCA ENSP00000497965.1:p.Gln491=
ENST00000649781.1:c.1471_1472delinsCA ENSP00000497203.1:p.Gln491=
ENST00000003084.10:c.1654_1655delinsCA ENSP00000003084.6:p.Gln552=
ENST00000426809.5:c.1564_1565delinsCA ENSP00000389119.1:p.Gln522=
NM_000492.3:c.1654_1655delinsCA , LRG_663t1:c.1654_1655delinsCA NP_000483.3:p.Gln552=
XM_011515751.1:c.1744_1745delinsCA XP_011514053.1:p.Gln582=
XM_011515752.1:c.1744_1745delinsCA XP_011514054.1:p.Gln582=
XM_011515753.1:c.1411_1412delinsCA XP_011514055.1:p.Gln471=
XM_011515754.1:c.1411_1412delinsCA XP_011514056.1:p.Gln471=
NM_000492.4:c.1654_1655delinsCA MANE Select NP_000483.3:p.Gln552=