Canonical Allele Identifier: CA2695205221

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642580del , CM000669.2:g.117642580del	GRCh38
NC_000007.13:g.117282634del , CM000669.1:g.117282634del	GRCh37
NC_000007.12:g.117069870del	NCBI36
NG_016465.4:g.181797del , LRG_663:g.181797del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*69del	ENSP00000497673.2:n.*69del
ENST00000647978.2:c.*3574del	ENSP00000497658.1:n.*3574del
ENST00000649781.2:c.3677del	ENSP00000497203.1:p.Gly1226GlufsTer2
ENST00000685018.2:c.3860del	ENSP00000510194.2:p.Gly1287GlufsTer2
ENST00000687278.2:c.*513del	ENSP00000509593.2:n.*513del
ENST00000699585.1:c.*69del	ENSP00000514456.1:n.*69del
ENST00000699598.1:c.3860del	ENSP00000514467.1:p.Gly1287GlufsTer2
ENST00000699599.1:c.3860del	ENSP00000514468.1:p.Gly1287GlufsTer2
ENST00000699600.1:c.*521del	ENSP00000514469.1:n.*521del
ENST00000699601.1:c.*2235del	ENSP00000514470.1:n.*2235del
ENST00000699602.1:c.3854del	ENSP00000514471.1:p.Gly1285GlufsTer2
ENST00000699604.1:c.*3684del	ENSP00000514472.1:n.*3684del
ENST00000699605.1:c.3434del	ENSP00000514473.1:p.Gly1145GlufsTer2
ENST00000685018.1:c.608del	ENSP00000510194.1:p.Gly203GlufsTer2
ENST00000687278.1:c.1647del	ENSP00000509593.1:n.1647del
ENST00000689011.1:c.442del
ENST00000003084.11:c.3860del MANE Select	ENSP00000003084.6:p.Gly1287GlufsTer2
ENST00000647720.1:c.1310del
ENST00000649781.1:c.3677del	ENSP00000497203.1:p.Gly1226GlufsTer2
ENST00000003084.10:c.3860del	ENSP00000003084.6:p.Gly1287GlufsTer2
ENST00000426809.5:c.3770del	ENSP00000389119.1:p.Gly1257GlufsTer2
NM_000492.3:c.3860del , LRG_663t1:c.3860del	NP_000483.3:p.Gly1287GlufsTer2
XM_011515751.1:c.3950del	XP_011514053.1:p.Gly1317GlufsTer2
XM_011515752.1:c.3950del	XP_011514054.1:p.Gly1317GlufsTer2
XM_011515753.1:c.3617del	XP_011514055.1:p.Gly1206GlufsTer2
XM_011515754.1:c.3617del	XP_011514056.1:p.Gly1206GlufsTer2
NM_000492.4:c.3860del MANE Select	NP_000483.3:p.Gly1287GlufsTer2