Canonical Allele Identifier: CA2695208424

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117606698_117606699del , CM000669.2:g.117606698_117606699del	GRCh38
NC_000007.13:g.117246752_117246753del , CM000669.1:g.117246752_117246753del	GRCh37
NC_000007.12:g.117033988_117033989del	NCBI36
NG_016465.4:g.145915_145916del , LRG_663:g.145915_145916del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2933_2934del	ENSP00000497673.2:p.Lys978ArgfsTer7
ENST00000647978.2:c.*2647_*2648del	ENSP00000497658.1:n.*2647_*2648del
ENST00000649781.2:c.2750_2751del	ENSP00000497203.1:p.Lys917ArgfsTer7
ENST00000685018.2:c.2933_2934del	ENSP00000510194.2:p.Lys978ArgfsTer7
ENST00000687278.2:c.2933_2934del	ENSP00000509593.2:p.Lys978ArgfsTer7
ENST00000699585.1:c.2933_2934del	ENSP00000514456.1:p.Lys978ArgfsTer7
ENST00000699598.1:c.2933_2934del	ENSP00000514467.1:p.Lys978ArgfsTer7
ENST00000699599.1:c.2933_2934del	ENSP00000514468.1:p.Lys978ArgfsTer7
ENST00000699600.1:c.2933_2934del	ENSP00000514469.1:p.Lys978ArgfsTer7
ENST00000699601.1:c.*1233_*1234del	ENSP00000514470.1:n.*1233_*1234del
ENST00000699602.1:c.2933_2934del	ENSP00000514471.1:p.Lys978ArgfsTer7
ENST00000699604.1:c.*2757_*2758del	ENSP00000514472.1:n.*2757_*2758del
ENST00000699605.1:c.2507_2508del	ENSP00000514473.1:p.Lys836ArgfsTer7
ENST00000687278.1:c.524_525del	ENSP00000509593.1:p.Lys175ArgfsTer7
ENST00000003084.11:c.2933_2934del MANE Select	ENSP00000003084.6:p.Lys978ArgfsTer7
ENST00000647720.1:c.583_584del
ENST00000648260.1:c.1715_1716del	ENSP00000497957.1:p.Lys572ArgfsTer7
ENST00000649406.1:c.2750_2751del	ENSP00000497965.1:p.Lys917ArgfsTer7
ENST00000649781.1:c.2750_2751del	ENSP00000497203.1:p.Lys917ArgfsTer7
ENST00000003084.10:c.2933_2934del	ENSP00000003084.6:p.Lys978ArgfsTer7
ENST00000426809.5:c.2843_2844del	ENSP00000389119.1:p.Lys948ArgfsTer7
NM_000492.3:c.2933_2934del , LRG_663t1:c.2933_2934del	NP_000483.3:p.Lys978ArgfsTer7
XM_011515751.1:c.3023_3024del	XP_011514053.1:p.Lys1008ArgfsTer7
XM_011515752.1:c.3023_3024del	XP_011514054.1:p.Lys1008ArgfsTer7
XM_011515753.1:c.2690_2691del	XP_011514055.1:p.Lys897ArgfsTer7
XM_011515754.1:c.2690_2691del	XP_011514056.1:p.Lys897ArgfsTer7
NM_000492.4:c.2933_2934del MANE Select	NP_000483.3:p.Lys978ArgfsTer7