Canonical Allele Identifier: CA2580076402

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1705867
• ClinVar RCV Id: RCV002284241

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117606038_117613002delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG , CM000669.2:g.117606038_117613002delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG	GRCh38
NC_000007.13:g.117246092_117253056delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG , CM000669.1:g.117246092_117253056delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG	GRCh37
NC_000007.12:g.117033328_117040292delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG	NCBI36
NG_016465.4:g.145255_152219delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG , LRG_663:g.145255_152219delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2909-636_3367+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG
ENST00000647978.2:c.*2623-636_*3081+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG
ENST00000649781.2:c.2726-636_3184+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG
ENST00000685018.2:c.2909-636_3367+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG
ENST00000687278.2:c.2909-636_3367+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG
ENST00000699585.1:c.2909-636_3367+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG
ENST00000699598.1:c.2909-636_3367+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG
ENST00000699599.1:c.2909-636_3367+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG
ENST00000699600.1:c.2909-636_3367+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG
ENST00000699601.1:c.*1209-636_*1667+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG
ENST00000699602.1:c.2909-636_3367+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG
ENST00000699604.1:c.*2733-636_*3191+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG
ENST00000699605.1:c.2483-636_2941+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG
ENST00000687278.1:c.500-636_958+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG
ENST00000003084.11:c.2909-636_3367+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG
ENST00000647720.1:c.559-636_1017+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG
ENST00000648260.1:c.1691-636_2149+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG
ENST00000649406.1:c.2726-636_3184+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG
ENST00000649781.1:c.2726-636_3184+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG
ENST00000003084.10:c.2909-636_3367+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG
ENST00000426809.5:c.2819-636_3277+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG
NM_000492.3:c.2909-636_3367+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG , LRG_663t1:c.2909-636_3367+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG
XM_011515751.1:c.2999-636_3457+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG
XM_011515752.1:c.2999-636_3457+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG
XM_011515753.1:c.2666-636_3124+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG
XM_011515754.1:c.2666-636_3124+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG
NM_000492.4:c.2909-636_3367+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG