Canonical Allele Identifier: CA2695208379

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627688del , CM000669.2:g.117627688del	GRCh38
NC_000007.13:g.117267742del , CM000669.1:g.117267742del	GRCh37
NC_000007.12:g.117054978del	NCBI36
NG_016465.4:g.166905del , LRG_663:g.166905del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3517+118del	ENSP00000497673.2:n.3517+118del
ENST00000647978.2:c.*3349del	ENSP00000497658.1:n.*3349del
ENST00000649781.2:c.3452del	ENSP00000497203.1:p.Val1151AlafsTer16
ENST00000685018.2:c.3635del	ENSP00000510194.2:p.Val1212AlafsTer16
ENST00000687278.2:c.*288del	ENSP00000509593.2:n.*288del
ENST00000699585.1:c.3517+118del	ENSP00000514456.1:n.3517+118del
ENST00000699598.1:c.3635del	ENSP00000514467.1:p.Val1212AlafsTer16
ENST00000699599.1:c.3635del	ENSP00000514468.1:p.Val1212AlafsTer16
ENST00000699600.1:c.*296del	ENSP00000514469.1:n.*296del
ENST00000699601.1:c.*2010del	ENSP00000514470.1:n.*2010del
ENST00000699602.1:c.3629del	ENSP00000514471.1:p.Val1210AlafsTer16
ENST00000699604.1:c.*3459del	ENSP00000514472.1:n.*3459del
ENST00000699605.1:c.3209del	ENSP00000514473.1:p.Val1070AlafsTer16
ENST00000685018.1:c.383del	ENSP00000510194.1:p.Val128AlafsTer16
ENST00000687278.1:c.1422del	ENSP00000509593.1:n.1422del
ENST00000689011.1:c.217del
ENST00000003084.11:c.3635del MANE Select	ENSP00000003084.6:p.Val1212AlafsTer16
ENST00000647720.1:c.1167+118del
ENST00000648260.1:c.2417del	ENSP00000497957.1:p.Val806AlafsTer16
ENST00000649406.1:c.3452del	ENSP00000497965.1:p.Val1151AlafsTer16
ENST00000649781.1:c.3452del	ENSP00000497203.1:p.Val1151AlafsTer16
ENST00000003084.10:c.3635del	ENSP00000003084.6:p.Val1212AlafsTer16
ENST00000426809.5:c.3545del	ENSP00000389119.1:p.Val1182AlafsTer16
ENST00000468795.1:c.460del
NM_000492.3:c.3635del , LRG_663t1:c.3635del	NP_000483.3:p.Val1212AlafsTer16
XM_011515751.1:c.3725del	XP_011514053.1:p.Val1242AlafsTer16
XM_011515752.1:c.3725del	XP_011514054.1:p.Val1242AlafsTer16
XM_011515753.1:c.3392del	XP_011514055.1:p.Val1131AlafsTer16
XM_011515754.1:c.3392del	XP_011514056.1:p.Val1131AlafsTer16
NM_000492.4:c.3635del MANE Select	NP_000483.3:p.Val1212AlafsTer16