Canonical Allele Identifier: CA2546354450

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117540163_117540164insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC , CM000669.2:g.117540163_117540164insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC	GRCh38
NC_000007.13:g.117180217_117180218insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC , CM000669.1:g.117180217_117180218insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC	GRCh37
NC_000007.12:g.116967453_116967454insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC	NCBI36
NG_016465.4:g.79380_79381insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC , LRG_663:g.79380_79381insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.933_934insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC
ENST00000647978.2:c.*830_*831insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC	ENSP00000497658.1:n.*830_*831insAGAACTGGA...
ENST00000649781.2:c.933_934insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC
ENST00000685018.2:c.933_934insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC
ENST00000687278.2:c.933_934insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC
ENST00000699585.1:c.933_934insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC
ENST00000699596.1:c.933_934insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC
ENST00000699597.1:c.933_934insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC
ENST00000699598.1:c.933_934insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC
ENST00000699599.1:c.933_934insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC
ENST00000699600.1:c.933_934insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC
ENST00000699601.1:c.933_934insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC
ENST00000699602.1:c.933_934insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC
ENST00000699604.1:c.*757_*758insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC	ENSP00000514472.1:n.*757_*758insAGAACTGGA...
ENST00000699605.1:c.690_691insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC
ENST00000003084.11:c.933_934insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC
ENST00000647978.1:c.*830_*831insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC	ENSP00000497658.1:n.*830_*831insAGAACTGGA...
ENST00000648260.1:c.933_934insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC
ENST00000649406.1:c.933_934insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC
ENST00000649781.1:c.933_934insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC
ENST00000673785.1:c.690_691insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC
ENST00000003084.10:c.933_934insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC
ENST00000426809.5:c.843_844insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC
NM_000492.3:c.933_934insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC , LRG_663t1:c.933_934insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC
XM_011515751.1:c.1023_1024insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC
XM_011515752.1:c.1023_1024insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC
XM_011515753.1:c.690_691insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC
XM_011515754.1:c.690_691insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC
NM_000492.4:c.933_934insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC