Canonical Allele Identifier: CA2695208423

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603743del , CM000669.2:g.117603743del	GRCh38
NC_000007.13:g.117243797del , CM000669.1:g.117243797del	GRCh37
NC_000007.12:g.117031033del	NCBI36
NG_016465.4:g.142960del , LRG_663:g.142960del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2869del	ENSP00000497673.2:p.Leu957PhefsTer11
ENST00000647978.2:c.*2583del	ENSP00000497658.1:n.*2583del
ENST00000649781.2:c.2686del	ENSP00000497203.1:p.Leu896PhefsTer11
ENST00000685018.2:c.2869del	ENSP00000510194.2:p.Leu957PhefsTer11
ENST00000687278.2:c.2869del	ENSP00000509593.2:p.Leu957PhefsTer11
ENST00000699585.1:c.2869del	ENSP00000514456.1:p.Leu957PhefsTer11
ENST00000699598.1:c.2869del	ENSP00000514467.1:p.Leu957PhefsTer11
ENST00000699599.1:c.2869del	ENSP00000514468.1:p.Leu957PhefsTer11
ENST00000699600.1:c.2869del	ENSP00000514469.1:p.Leu957PhefsTer11
ENST00000699601.1:c.*1169del	ENSP00000514470.1:n.*1169del
ENST00000699602.1:c.2869del	ENSP00000514471.1:p.Leu957PhefsTer11
ENST00000699604.1:c.*2693del	ENSP00000514472.1:n.*2693del
ENST00000699605.1:c.2443del	ENSP00000514473.1:p.Leu815PhefsTer11
ENST00000687278.1:c.460del	ENSP00000509593.1:p.Leu154PhefsTer11
ENST00000003084.11:c.2869del MANE Select	ENSP00000003084.6:p.Leu957PhefsTer11
ENST00000647720.1:c.519del
ENST00000648260.1:c.1651del	ENSP00000497957.1:p.Leu551PhefsTer11
ENST00000649406.1:c.2686del	ENSP00000497965.1:p.Leu896PhefsTer11
ENST00000649781.1:c.2686del	ENSP00000497203.1:p.Leu896PhefsTer11
ENST00000003084.10:c.2869del	ENSP00000003084.6:p.Leu957PhefsTer11
ENST00000426809.5:c.2779del	ENSP00000389119.1:p.Leu927PhefsTer11
NM_000492.3:c.2869del , LRG_663t1:c.2869del	NP_000483.3:p.Leu957PhefsTer11
XM_011515751.1:c.2959del	XP_011514053.1:p.Leu987PhefsTer11
XM_011515752.1:c.2959del	XP_011514054.1:p.Leu987PhefsTer11
XM_011515753.1:c.2626del	XP_011514055.1:p.Leu876PhefsTer11
XM_011515754.1:c.2626del	XP_011514056.1:p.Leu876PhefsTer11
NM_000492.4:c.2869del MANE Select	NP_000483.3:p.Leu957PhefsTer11