Canonical Allele Identifier: CA2777590843
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117642627_117642628insA , CM000669.2:g.117642627_117642628insA GRCh38
NC_000007.13:g.117282681_117282682insA , CM000669.1:g.117282681_117282682insA GRCh37
NC_000007.12:g.117069917_117069918insA NCBI36
NG_016465.4:g.181844_181845insA , LRG_663:g.181844_181845insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.*82+34_*82+35insA ENSP00000497673.2:n.*82+34_*82+35insA
ENST00000647978.2:c.*3587+34_*3587+35insA ENSP00000497658.1:n.*3587+34_*3587+35insA
ENST00000649781.2:c.3690+34_3690+35insA ENSP00000497203.1:n.3690+34_3690+35insA
ENST00000685018.2:c.3873+34_3873+35insA ENSP00000510194.2:n.3873+34_3873+35insA
ENST00000687278.2:c.*526+34_*526+35insA ENSP00000509593.2:n.*526+34_*526+35insA
ENST00000699585.1:c.*82+34_*82+35insA ENSP00000514456.1:n.*82+34_*82+35insA
ENST00000699598.1:c.3873+34_3873+35insA ENSP00000514467.1:n.3873+34_3873+35insA
ENST00000699599.1:c.3873+34_3873+35insA ENSP00000514468.1:n.3873+34_3873+35insA
ENST00000699600.1:c.*534+34_*534+35insA ENSP00000514469.1:n.*534+34_*534+35insA
ENST00000699601.1:c.*2248+34_*2248+35insA ENSP00000514470.1:n.*2248+34_*2248+35insA
ENST00000699602.1:c.3867+34_3867+35insA ENSP00000514471.1:n.3867+34_3867+35insA
ENST00000699604.1:c.*3697+34_*3697+35insA ENSP00000514472.1:n.*3697+34_*3697+35insA
ENST00000699605.1:c.3447+34_3447+35insA ENSP00000514473.1:n.3447+34_3447+35insA
ENST00000685018.1:c.621+34_621+35insA ENSP00000510194.1:n.621+34_621+35insA
ENST00000687278.1:c.1660+34_1660+35insA ENSP00000509593.1:n.1660+34_1660+35insA
ENST00000689011.1:c.455+34_455+35insA
ENST00000003084.11:c.3873+34_3873+35insA MANE Select ENSP00000003084.6:n.3873+34_3873+35insA
ENST00000647720.1:c.1323+34_1323+35insA
ENST00000649781.1:c.3690+34_3690+35insA ENSP00000497203.1:n.3690+34_3690+35insA
ENST00000003084.10:c.3873+34_3873+35insA ENSP00000003084.6:n.3873+34_3873+35insA
ENST00000426809.5:c.3783+34_3783+35insA ENSP00000389119.1:n.3783+34_3783+35insA
NM_000492.3:c.3873+34_3873+35insA , LRG_663t1:c.3873+34_3873+35insA NP_000483.3:n.3873+34_3873+35insA
XM_011515751.1:c.3963+34_3963+35insA XP_011514053.1:n.3963+34_3963+35insA
XM_011515752.1:c.3963+34_3963+35insA XP_011514054.1:n.3963+34_3963+35insA
XM_011515753.1:c.3630+34_3630+35insA XP_011514055.1:n.3630+34_3630+35insA
XM_011515754.1:c.3630+34_3630+35insA XP_011514056.1:n.3630+34_3630+35insA
NM_000492.4:c.3873+34_3873+35insA MANE Select NP_000483.3:n.3873+34_3873+35insA