Canonical Allele Identifier: CA2838032941

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117594986_117594994del , CM000669.2:g.117594986_117594994del	GRCh38
NC_000007.13:g.117235040_117235048del , CM000669.1:g.117235040_117235048del	GRCh37
NC_000007.12:g.117022276_117022284del	NCBI36
NG_016465.4:g.134203_134211del , LRG_663:g.134203_134211del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2547_2555del	ENSP00000497673.2:p.Leu850_Tyr852del
ENST00000647978.2:c.*2261_*2269del	ENSP00000497658.1:n.*2261_*2269del
ENST00000649781.2:c.2364_2372del	ENSP00000497203.1:p.Leu789_Tyr791del
ENST00000685018.2:c.2547_2555del	ENSP00000510194.2:p.Leu850_Tyr852del
ENST00000687278.2:c.2547_2555del	ENSP00000509593.2:p.Leu850_Tyr852del
ENST00000699585.1:c.2547_2555del	ENSP00000514456.1:p.Leu850_Tyr852del
ENST00000699598.1:c.2547_2555del	ENSP00000514467.1:p.Leu850_Tyr852del
ENST00000699599.1:c.2547_2555del	ENSP00000514468.1:p.Leu850_Tyr852del
ENST00000699600.1:c.2547_2555del	ENSP00000514469.1:p.Leu850_Tyr852del
ENST00000699601.1:c.*847_*855del	ENSP00000514470.1:n.*847_*855del
ENST00000699602.1:c.2547_2555del	ENSP00000514471.1:p.Leu850_Tyr852del
ENST00000699604.1:c.*2371_*2379del	ENSP00000514472.1:n.*2371_*2379del
ENST00000699605.1:c.2121_2129del	ENSP00000514473.1:p.Leu708_Tyr710del
ENST00000687278.1:c.138_146del	ENSP00000509593.1:p.Leu47_Tyr49del
ENST00000003084.11:c.2547_2555del MANE Select	ENSP00000003084.6:p.Leu850_Tyr852del
ENST00000647720.1:c.197_205del
ENST00000648260.1:c.1402-7840_1402-7832del	ENSP00000497957.1:n.1402-7840_1402-7832del
ENST00000649406.1:c.2364_2372del	ENSP00000497965.1:p.Leu789_Tyr791del
ENST00000649781.1:c.2364_2372del	ENSP00000497203.1:p.Leu789_Tyr791del
ENST00000003084.10:c.2547_2555del	ENSP00000003084.6:p.Leu850_Tyr852del
ENST00000426809.5:c.2457_2465del	ENSP00000389119.1:p.Leu820_Tyr822del
NM_000492.3:c.2547_2555del , LRG_663t1:c.2547_2555del	NP_000483.3:p.Leu850_Tyr852del
XM_011515751.1:c.2637_2645del	XP_011514053.1:p.Leu880_Tyr882del
XM_011515752.1:c.2637_2645del	XP_011514054.1:p.Leu880_Tyr882del
XM_011515753.1:c.2304_2312del	XP_011514055.1:p.Leu769_Tyr771del
XM_011515754.1:c.2304_2312del	XP_011514056.1:p.Leu769_Tyr771del
NM_000492.4:c.2547_2555del MANE Select	NP_000483.3:p.Leu850_Tyr852del