Canonical Allele Identifier: CA2695208437

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117611732del , CM000669.2:g.117611732del	GRCh38
NC_000007.13:g.117251786del , CM000669.1:g.117251786del	GRCh37
NC_000007.12:g.117039022del	NCBI36
NG_016465.4:g.150949del , LRG_663:g.150949del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3291del	ENSP00000497673.2:p.Trp1098GlyfsTer4
ENST00000647978.2:c.*3005del	ENSP00000497658.1:n.*3005del
ENST00000649781.2:c.3108del	ENSP00000497203.1:p.Trp1037GlyfsTer4
ENST00000685018.2:c.3291del	ENSP00000510194.2:p.Trp1098GlyfsTer4
ENST00000687278.2:c.3291del	ENSP00000509593.2:p.Trp1098GlyfsTer4
ENST00000699585.1:c.3291del	ENSP00000514456.1:p.Trp1098GlyfsTer4
ENST00000699598.1:c.3291del	ENSP00000514467.1:p.Trp1098GlyfsTer4
ENST00000699599.1:c.3291del	ENSP00000514468.1:p.Trp1098GlyfsTer4
ENST00000699600.1:c.3291del	ENSP00000514469.1:p.Trp1098GlyfsTer4
ENST00000699601.1:c.*1591del	ENSP00000514470.1:n.*1591del
ENST00000699602.1:c.3291del	ENSP00000514471.1:p.Trp1098GlyfsTer4
ENST00000699604.1:c.*3115del	ENSP00000514472.1:n.*3115del
ENST00000699605.1:c.2865del	ENSP00000514473.1:p.Trp956GlyfsTer4
ENST00000685018.1:c.39del	ENSP00000510194.1:p.Trp14GlyfsTer4
ENST00000687278.1:c.882del	ENSP00000509593.1:p.Trp295GlyfsTer4
ENST00000003084.11:c.3291del MANE Select	ENSP00000003084.6:p.Trp1098GlyfsTer4
ENST00000647720.1:c.941del
ENST00000648260.1:c.2073del	ENSP00000497957.1:p.Trp692GlyfsTer4
ENST00000649406.1:c.3108del	ENSP00000497965.1:p.Trp1037GlyfsTer4
ENST00000649781.1:c.3108del	ENSP00000497203.1:p.Trp1037GlyfsTer4
ENST00000003084.10:c.3291del	ENSP00000003084.6:p.Trp1098GlyfsTer4
ENST00000426809.5:c.3201del	ENSP00000389119.1:p.Trp1068GlyfsTer4
ENST00000468795.1:c.116del
NM_000492.3:c.3291del , LRG_663t1:c.3291del	NP_000483.3:p.Trp1098GlyfsTer4
XM_011515751.1:c.3381del	XP_011514053.1:p.Trp1128GlyfsTer4
XM_011515752.1:c.3381del	XP_011514054.1:p.Trp1128GlyfsTer4
XM_011515753.1:c.3048del	XP_011514055.1:p.Trp1017GlyfsTer4
XM_011515754.1:c.3048del	XP_011514056.1:p.Trp1017GlyfsTer4
NM_000492.4:c.3291del MANE Select	NP_000483.3:p.Trp1098GlyfsTer4