Canonical Allele Identifier: CA2684619365

Gene: CFTR

Linked Data

• gnomAD v4: 7-117592630-TGAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592634_117592636del , CM000669.2:g.117592634_117592636del	GRCh38
NC_000007.13:g.117232688_117232690del , CM000669.1:g.117232688_117232690del	GRCh37
NC_000007.12:g.117019924_117019926del	NCBI36
NG_016465.4:g.131851_131853del , LRG_663:g.131851_131853del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2467_2469del	ENSP00000497673.2:p.Glu823del
ENST00000647978.2:c.*2181_*2183del	ENSP00000497658.1:n.*2181_*2183del
ENST00000649781.2:c.2284_2286del	ENSP00000497203.1:p.Glu762del
ENST00000685018.2:c.2467_2469del	ENSP00000510194.2:p.Glu823del
ENST00000687278.2:c.2467_2469del	ENSP00000509593.2:p.Glu823del
ENST00000699585.1:c.2467_2469del	ENSP00000514456.1:p.Glu823del
ENST00000699598.1:c.2467_2469del	ENSP00000514467.1:p.Glu823del
ENST00000699599.1:c.2467_2469del	ENSP00000514468.1:p.Glu823del
ENST00000699600.1:c.2467_2469del	ENSP00000514469.1:p.Glu823del
ENST00000699601.1:c.*767_*769del	ENSP00000514470.1:n.*767_*769del
ENST00000699602.1:c.2467_2469del	ENSP00000514471.1:p.Glu823del
ENST00000699604.1:c.*2291_*2293del	ENSP00000514472.1:n.*2291_*2293del
ENST00000699605.1:c.2041_2043del	ENSP00000514473.1:p.Glu681del
ENST00000687278.1:c.58_60del	ENSP00000509593.1:p.Glu20del
ENST00000003084.11:c.2467_2469del MANE Select	ENSP00000003084.6:p.Glu823del
ENST00000647720.1:c.117_119del
ENST00000647978.1:c.*2181_*2183del	ENSP00000497658.1:n.*2181_*2183del
ENST00000648260.1:c.1402-10192_1402-10190del	ENSP00000497957.1:n.1402-10192_1402-10190...
ENST00000649406.1:c.2284_2286del	ENSP00000497965.1:p.Glu762del
ENST00000649781.1:c.2284_2286del	ENSP00000497203.1:p.Glu762del
ENST00000003084.10:c.2467_2469del	ENSP00000003084.6:p.Glu823del
ENST00000426809.5:c.2377_2379del	ENSP00000389119.1:p.Glu793del
NM_000492.3:c.2467_2469del , LRG_663t1:c.2467_2469del	NP_000483.3:p.Glu823del
XM_011515751.1:c.2557_2559del	XP_011514053.1:p.Glu853del
XM_011515752.1:c.2557_2559del	XP_011514054.1:p.Glu853del
XM_011515753.1:c.2224_2226del	XP_011514055.1:p.Glu742del
XM_011515754.1:c.2224_2226del	XP_011514056.1:p.Glu742del
NM_000492.4:c.2467_2469del MANE Select	NP_000483.3:p.Glu823del