Canonical Allele Identifier: CA1737404922
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117642827_117642828delinsCA , CM000669.2:g.117642827_117642828delinsCA GRCh38
NC_000007.13:g.117282881_117282882delinsCA , CM000669.1:g.117282881_117282882delinsCA GRCh37
NC_000007.12:g.117070117_117070118delinsCA NCBI36
NG_016465.4:g.182044_182045delinsCA , LRG_663:g.182044_182045delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.*82+234_*82+235delinsCA ENSP00000497673.2:n.*82+234_*82+235delinsCA
ENST00000647978.2:c.*3587+234_*3587+235delinsCA ENSP00000497658.1:n.*3587+234_*3587+235delinsCA
ENST00000649781.2:c.3690+234_3690+235delinsCA ENSP00000497203.1:n.3690+234_3690+235delinsCA
ENST00000685018.2:c.3874-41_3874-40delinsCA ENSP00000510194.2:n.3874-41_3874-40delinsCA
ENST00000687278.2:c.*526+234_*526+235delinsCA ENSP00000509593.2:n.*526+234_*526+235delinsCA
ENST00000699585.1:c.*82+234_*82+235delinsCA ENSP00000514456.1:n.*82+234_*82+235delinsCA
ENST00000699598.1:c.3873+234_3873+235delinsCA ENSP00000514467.1:n.3873+234_3873+235delinsCA
ENST00000699599.1:c.3874-41_3874-40delinsCA ENSP00000514468.1:n.3874-41_3874-40delinsCA
ENST00000699600.1:c.*534+234_*534+235delinsCA ENSP00000514469.1:n.*534+234_*534+235delinsCA
ENST00000699601.1:c.*2248+234_*2248+235delinsCA ENSP00000514470.1:n.*2248+234_*2248+235delinsCA
ENST00000699602.1:c.3867+234_3867+235delinsCA ENSP00000514471.1:n.3867+234_3867+235delinsCA
ENST00000699604.1:c.*3697+234_*3697+235delinsCA ENSP00000514472.1:n.*3697+234_*3697+235delinsCA
ENST00000699605.1:c.3447+234_3447+235delinsCA ENSP00000514473.1:n.3447+234_3447+235delinsCA
ENST00000685018.1:c.622-41_622-40delinsCA ENSP00000510194.1:n.622-41_622-40delinsCA
ENST00000687278.1:c.1660+234_1660+235delinsCA ENSP00000509593.1:n.1660+234_1660+235delinsCA
ENST00000689011.1:c.455+234_455+235delinsCA
ENST00000003084.11:c.3873+234_3873+235delinsCA MANE Select ENSP00000003084.6:n.3873+234_3873+235delinsCA
ENST00000647720.1:c.1323+234_1323+235delinsCA
ENST00000649781.1:c.3690+234_3690+235delinsCA ENSP00000497203.1:n.3690+234_3690+235delinsCA
ENST00000003084.10:c.3873+234_3873+235delinsCA ENSP00000003084.6:n.3873+234_3873+235delinsCA
ENST00000426809.5:c.3783+234_3783+235delinsCA ENSP00000389119.1:n.3783+234_3783+235delinsCA
NM_000492.3:c.3873+234_3873+235delinsCA , LRG_663t1:c.3873+234_3873+235delinsCA NP_000483.3:n.3873+234_3873+235delinsCA
XM_011515751.1:c.3963+234_3963+235delinsCA XP_011514053.1:n.3963+234_3963+235delinsCA
XM_011515752.1:c.3963+234_3963+235delinsCA XP_011514054.1:n.3963+234_3963+235delinsCA
XM_011515753.1:c.3630+234_3630+235delinsCA XP_011514055.1:n.3630+234_3630+235delinsCA
XM_011515754.1:c.3630+234_3630+235delinsCA XP_011514056.1:n.3630+234_3630+235delinsCA
NM_000492.4:c.3873+234_3873+235delinsCA MANE Select NP_000483.3:n.3873+234_3873+235delinsCA