Canonical Allele Identifier: CA645541509

Gene: CFTR

Linked Data

• COSMIC: COSM5802364

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592650_117592657del , CM000669.2:g.117592650_117592657del	GRCh38
NC_000007.13:g.117232704_117232711del , CM000669.1:g.117232704_117232711del	GRCh37
NC_000007.12:g.117019940_117019947del	NCBI36
NG_016465.4:g.131867_131874del , LRG_663:g.131867_131874del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2483_2490del	ENSP00000497673.2:p.Asp828GlyfsTer5
ENST00000647978.2:c.*2197_*2204del	ENSP00000497658.1:n.*2197_*2204del
ENST00000649781.2:c.2300_2307del	ENSP00000497203.1:p.Asp767GlyfsTer5
ENST00000685018.2:c.2483_2490del	ENSP00000510194.2:p.Asp828GlyfsTer5
ENST00000687278.2:c.2483_2490del	ENSP00000509593.2:p.Asp828GlyfsTer5
ENST00000699585.1:c.2483_2490del	ENSP00000514456.1:p.Asp828GlyfsTer5
ENST00000699598.1:c.2483_2490del	ENSP00000514467.1:p.Asp828GlyfsTer5
ENST00000699599.1:c.2483_2490del	ENSP00000514468.1:p.Asp828GlyfsTer5
ENST00000699600.1:c.2483_2490del	ENSP00000514469.1:p.Asp828GlyfsTer5
ENST00000699601.1:c.*783_*790del	ENSP00000514470.1:n.*783_*790del
ENST00000699602.1:c.2483_2490del	ENSP00000514471.1:p.Asp828GlyfsTer5
ENST00000699604.1:c.*2307_*2314del	ENSP00000514472.1:n.*2307_*2314del
ENST00000699605.1:c.2057_2064del	ENSP00000514473.1:p.Asp686GlyfsTer5
ENST00000687278.1:c.74_81del	ENSP00000509593.1:p.Asp25GlyfsTer5
ENST00000003084.11:c.2483_2490del MANE Select	ENSP00000003084.6:p.Asp828GlyfsTer5
ENST00000647720.1:c.133_140del
ENST00000647978.1:c.*2197_*2204del	ENSP00000497658.1:n.*2197_*2204del
ENST00000648260.1:c.1402-10176_1402-10169del	ENSP00000497957.1:n.1402-10176_1402-10169del
ENST00000649406.1:c.2300_2307del	ENSP00000497965.1:p.Asp767GlyfsTer5
ENST00000649781.1:c.2300_2307del	ENSP00000497203.1:p.Asp767GlyfsTer5
ENST00000003084.10:c.2483_2490del	ENSP00000003084.6:p.Asp828GlyfsTer5
ENST00000426809.5:c.2393_2400del	ENSP00000389119.1:p.Asp798GlyfsTer5
NM_000492.3:c.2483_2490del , LRG_663t1:c.2483_2490del	NP_000483.3:p.Asp828GlyfsTer5
XM_011515751.1:c.2573_2580del	XP_011514053.1:p.Asp858GlyfsTer5
XM_011515752.1:c.2573_2580del	XP_011514054.1:p.Asp858GlyfsTer5
XM_011515753.1:c.2240_2247del	XP_011514055.1:p.Asp747GlyfsTer5
XM_011515754.1:c.2240_2247del	XP_011514056.1:p.Asp747GlyfsTer5
NM_000492.4:c.2483_2490del MANE Select	NP_000483.3:p.Asp828GlyfsTer5