Canonical Allele Identifier: CA1737404946
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117642902_117642906delinsCAAGT , CM000669.2:g.117642902_117642906delinsCAAGT GRCh38
NC_000007.13:g.117282956_117282960delinsCAAGT , CM000669.1:g.117282956_117282960delinsCAAGT GRCh37
NC_000007.12:g.117070192_117070196delinsCAAGT NCBI36
NG_016465.4:g.182119_182123delinsCAAGT , LRG_663:g.182119_182123delinsCAAGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.*82+309_*82+313delinsCAAGT ENSP00000497673.2:n.*82+309_*82+313delinsCAAGT
ENST00000647978.2:c.*3587+309_*3587+313delinsCAAGT ENSP00000497658.1:n.*3587+309_*3587+313delinsCAAGT
ENST00000649781.2:c.3690+309_3690+313delinsCAAGT ENSP00000497203.1:n.3690+309_3690+313delinsCAAGT
ENST00000685018.2:c.*5_*9delinsCAAGT ENSP00000510194.2:n.*5_*9delinsCAAGT
ENST00000687278.2:c.*526+309_*526+313delinsCAAGT ENSP00000509593.2:n.*526+309_*526+313delinsCAAGT
ENST00000699585.1:c.*82+309_*82+313delinsCAAGT ENSP00000514456.1:n.*82+309_*82+313delinsCAAGT
ENST00000699598.1:c.3873+309_3873+313delinsCAAGT ENSP00000514467.1:n.3873+309_3873+313delinsCAAGT
ENST00000699599.1:c.*5_*9delinsCAAGT ENSP00000514468.1:n.*5_*9delinsCAAGT
ENST00000699600.1:c.*534+309_*534+313delinsCAAGT ENSP00000514469.1:n.*534+309_*534+313delinsCAAGT
ENST00000699601.1:c.*2248+309_*2248+313delinsCAAGT ENSP00000514470.1:n.*2248+309_*2248+313delinsCAAGT
ENST00000699602.1:c.3867+309_3867+313delinsCAAGT ENSP00000514471.1:n.3867+309_3867+313delinsCAAGT
ENST00000699604.1:c.*3697+309_*3697+313delinsCAAGT ENSP00000514472.1:n.*3697+309_*3697+313delinsCAAGT
ENST00000699605.1:c.3447+309_3447+313delinsCAAGT ENSP00000514473.1:n.3447+309_3447+313delinsCAAGT
ENST00000685018.1:c.656_660delinsCAAGT ENSP00000510194.1:n.656_660delinsCAAGT
ENST00000687278.1:c.1660+309_1660+313delinsCAAGT ENSP00000509593.1:n.1660+309_1660+313delinsCAAGT
ENST00000689011.1:c.455+309_455+313delinsCAAGT
ENST00000003084.11:c.3873+309_3873+313delinsCAAGT MANE Select ENSP00000003084.6:n.3873+309_3873+313delinsCAAGT
ENST00000647720.1:c.1323+309_1323+313delinsCAAGT
ENST00000649781.1:c.3690+309_3690+313delinsCAAGT ENSP00000497203.1:n.3690+309_3690+313delinsCAAGT
ENST00000003084.10:c.3873+309_3873+313delinsCAAGT ENSP00000003084.6:n.3873+309_3873+313delinsCAAGT
ENST00000426809.5:c.3783+309_3783+313delinsCAAGT ENSP00000389119.1:n.3783+309_3783+313delinsCAAGT
NM_000492.3:c.3873+309_3873+313delinsCAAGT , LRG_663t1:c.3873+309_3873+313delinsCAAGT NP_000483.3:n.3873+309_3873+313delinsCAAGT
XM_011515751.1:c.3963+309_3963+313delinsCAAGT XP_011514053.1:n.3963+309_3963+313delinsCAAGT
XM_011515752.1:c.3963+309_3963+313delinsCAAGT XP_011514054.1:n.3963+309_3963+313delinsCAAGT
XM_011515753.1:c.3630+309_3630+313delinsCAAGT XP_011514055.1:n.3630+309_3630+313delinsCAAGT
XM_011515754.1:c.3630+309_3630+313delinsCAAGT XP_011514056.1:n.3630+309_3630+313delinsCAAGT
NM_000492.4:c.3873+309_3873+313delinsCAAGT MANE Select NP_000483.3:n.3873+309_3873+313delinsCAAGT