Canonical Allele Identifier: CA2579000228

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603561del , CM000669.2:g.117603561del	GRCh38
NC_000007.13:g.117243615del , CM000669.1:g.117243615del	GRCh37
NC_000007.12:g.117030851del	NCBI36
NG_016465.4:g.142778del , LRG_663:g.142778del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2687del	ENSP00000497673.2:p.Thr896IlefsTer10
ENST00000647978.2:c.*2401del	ENSP00000497658.1:n.*2401del
ENST00000649781.2:c.2504del	ENSP00000497203.1:p.Thr835IlefsTer10
ENST00000685018.2:c.2687del	ENSP00000510194.2:p.Thr896IlefsTer10
ENST00000687278.2:c.2687del	ENSP00000509593.2:p.Thr896IlefsTer10
ENST00000699585.1:c.2687del	ENSP00000514456.1:p.Thr896IlefsTer10
ENST00000699598.1:c.2687del	ENSP00000514467.1:p.Thr896IlefsTer10
ENST00000699599.1:c.2687del	ENSP00000514468.1:p.Thr896IlefsTer10
ENST00000699600.1:c.2687del	ENSP00000514469.1:p.Thr896IlefsTer10
ENST00000699601.1:c.*987del	ENSP00000514470.1:n.*987del
ENST00000699602.1:c.2687del	ENSP00000514471.1:p.Thr896IlefsTer10
ENST00000699604.1:c.*2511del	ENSP00000514472.1:n.*2511del
ENST00000699605.1:c.2261del	ENSP00000514473.1:p.Thr754IlefsTer10
ENST00000687278.1:c.278del	ENSP00000509593.1:p.Thr93IlefsTer10
ENST00000003084.11:c.2687del MANE Select	ENSP00000003084.6:p.Thr896IlefsTer10
ENST00000647720.1:c.337del
ENST00000648260.1:c.1469del	ENSP00000497957.1:p.Thr490IlefsTer10
ENST00000649406.1:c.2504del	ENSP00000497965.1:p.Thr835IlefsTer10
ENST00000649781.1:c.2504del	ENSP00000497203.1:p.Thr835IlefsTer10
ENST00000003084.10:c.2687del	ENSP00000003084.6:p.Thr896IlefsTer10
ENST00000426809.5:c.2597del	ENSP00000389119.1:p.Thr866IlefsTer10
NM_000492.3:c.2687del , LRG_663t1:c.2687del	NP_000483.3:p.Thr896IlefsTer10
XM_011515751.1:c.2777del	XP_011514053.1:p.Thr926IlefsTer10
XM_011515752.1:c.2777del	XP_011514054.1:p.Thr926IlefsTer10
XM_011515753.1:c.2444del	XP_011514055.1:p.Thr815IlefsTer10
XM_011515754.1:c.2444del	XP_011514056.1:p.Thr815IlefsTer10
NM_000492.4:c.2687del MANE Select	NP_000483.3:p.Thr896IlefsTer10