Canonical Allele Identifier: CA2695208533

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117602861_117602876del , CM000669.2:g.117602861_117602876del	GRCh38
NC_000007.13:g.117242915_117242930del , CM000669.1:g.117242915_117242930del	GRCh37
NC_000007.12:g.117030151_117030166del	NCBI36
NG_016465.4:g.142078_142093del , LRG_663:g.142078_142093del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2655_2657+13del
ENST00000647978.2:c.*2369_*2371+13del
ENST00000649781.2:c.2472_2474+13del
ENST00000685018.2:c.2655_2657+13del
ENST00000687278.2:c.2655_2657+13del
ENST00000699585.1:c.2655_2657+13del
ENST00000699598.1:c.2655_2657+13del
ENST00000699599.1:c.2655_2657+13del
ENST00000699600.1:c.2655_2657+13del
ENST00000699601.1:c.*955_*957+13del
ENST00000699602.1:c.2655_2657+13del
ENST00000699604.1:c.*2479_*2481+13del
ENST00000699605.1:c.2229_2231+13del
ENST00000687278.1:c.246_248+13del
ENST00000003084.11:c.2655_2657+13del
ENST00000647720.1:c.305_307+13del
ENST00000648260.1:c.1437_1439+13del
ENST00000649406.1:c.2472_2474+13del
ENST00000649781.1:c.2472_2474+13del
ENST00000003084.10:c.2655_2657+13del
ENST00000426809.5:c.2565_2567+13del
NM_000492.3:c.2655_2657+13del , LRG_663t1:c.2655_2657+13del
XM_011515751.1:c.2745_2747+13del
XM_011515752.1:c.2745_2747+13del
XM_011515753.1:c.2412_2414+13del
XM_011515754.1:c.2412_2414+13del
NM_000492.4:c.2655_2657+13del