Canonical Allele Identifier: CA2580614241
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117627470_117632802dup , CM000669.2:g.117627470_117632802dup GRCh38
NC_000007.13:g.117267524_117272856dup , CM000669.1:g.117267524_117272856dup GRCh37
NC_000007.12:g.117054760_117060092dup NCBI36
NG_016465.4:g.166687_172019dup , LRG_663:g.166687_172019dup

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.3469-52_3517+5232dup
ENST00000647978.2:c.*3183-52_*3431+5032dup
ENST00000649781.2:c.3286-52_3534+5032dup
ENST00000685018.2:c.3469-52_3717+5032dup
ENST00000687278.2:c.*122-52_*370+5032dup
ENST00000699585.1:c.3469-52_3517+5232dup
ENST00000699598.1:c.3469-52_3717+5032dup
ENST00000699599.1:c.3469-52_3717+5032dup
ENST00000699600.1:c.*130-52_*378+5032dup
ENST00000699601.1:c.*1844-52_*2092+5032dup
ENST00000699602.1:c.3463-52_3711+5032dup
ENST00000699604.1:c.*3293-52_*3541+5032dup
ENST00000699605.1:c.3043-52_3291+5032dup
ENST00000685018.1:c.217-52_465+5032dup
ENST00000687278.1:c.1256-52_1504+5032dup
ENST00000689011.1:c.51-52_299+5032dup
ENST00000003084.11:c.3469-52_3717+5032dup
ENST00000647720.1:c.1119-52_1167+5232dup
ENST00000649781.1:c.3286-52_3534+5032dup
ENST00000003084.10:c.3469-52_3717+5032dup
ENST00000426809.5:c.3379-52_3627+5032dup
NM_000492.3:c.3469-52_3717+5032dup , LRG_663t1:c.3469-52_3717+5032dup
XM_011515751.1:c.3559-52_3807+5032dup
XM_011515752.1:c.3559-52_3807+5032dup
XM_011515753.1:c.3226-52_3474+5032dup
XM_011515754.1:c.3226-52_3474+5032dup
NM_000492.4:c.3469-52_3717+5032dup