Canonical Allele Identifier: CA2695208421

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603677_117603687del , CM000669.2:g.117603677_117603687del	GRCh38
NC_000007.13:g.117243731_117243741del , CM000669.1:g.117243731_117243741del	GRCh37
NC_000007.12:g.117030967_117030977del	NCBI36
NG_016465.4:g.142894_142904del , LRG_663:g.142894_142904del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2803_2813del	ENSP00000497673.2:p.Leu935AlafsTer?
ENST00000647978.2:c.*2517_*2527del	ENSP00000497658.1:n.*2517_*2527del
ENST00000649781.2:c.2620_2630del	ENSP00000497203.1:p.Leu874AlafsTer?
ENST00000685018.2:c.2803_2813del	ENSP00000510194.2:p.Leu935AlafsTer?
ENST00000687278.2:c.2803_2813del	ENSP00000509593.2:p.Leu935AlafsTer?
ENST00000699585.1:c.2803_2813del	ENSP00000514456.1:p.Leu935AlafsTer?
ENST00000699598.1:c.2803_2813del	ENSP00000514467.1:p.Leu935AlafsTer?
ENST00000699599.1:c.2803_2813del	ENSP00000514468.1:p.Leu935AlafsTer?
ENST00000699600.1:c.2803_2813del	ENSP00000514469.1:p.Leu935AlafsTer?
ENST00000699601.1:c.*1103_*1113del	ENSP00000514470.1:n.*1103_*1113del
ENST00000699602.1:c.2803_2813del	ENSP00000514471.1:p.Leu935AlafsTer?
ENST00000699604.1:c.*2627_*2637del	ENSP00000514472.1:n.*2627_*2637del
ENST00000699605.1:c.2377_2387del	ENSP00000514473.1:p.Leu793AlafsTer?
ENST00000687278.1:c.394_404del	ENSP00000509593.1:p.Leu132AlafsTer?
ENST00000003084.11:c.2803_2813del MANE Select	ENSP00000003084.6:p.Leu935AlafsTer?
ENST00000647720.1:c.453_463del
ENST00000648260.1:c.1585_1595del	ENSP00000497957.1:p.Leu529AlafsTer?
ENST00000649406.1:c.2620_2630del	ENSP00000497965.1:p.Leu874AlafsTer?
ENST00000649781.1:c.2620_2630del	ENSP00000497203.1:p.Leu874AlafsTer?
ENST00000003084.10:c.2803_2813del	ENSP00000003084.6:p.Leu935AlafsTer?
ENST00000426809.5:c.2713_2723del	ENSP00000389119.1:p.Leu905AlafsTer?
NM_000492.3:c.2803_2813del , LRG_663t1:c.2803_2813del	NP_000483.3:p.Leu935AlafsTer?
XM_011515751.1:c.2893_2903del	XP_011514053.1:p.Leu965AlafsTer?
XM_011515752.1:c.2893_2903del	XP_011514054.1:p.Leu965AlafsTer?
XM_011515753.1:c.2560_2570del	XP_011514055.1:p.Leu854AlafsTer?
XM_011515754.1:c.2560_2570del	XP_011514056.1:p.Leu854AlafsTer?
NM_000492.4:c.2803_2813del MANE Select	NP_000483.3:p.Leu935AlafsTer?