Canonical Allele Identifier: CA2580076315

Gene: CFTR

Linked Data

• ClinVar Variation Id: 2032311
• ClinVar RCV Id: RCV002876893

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117509139del , CM000669.2:g.117509139del	GRCh38
NC_000007.13:g.117149193del , CM000669.1:g.117149193del	GRCh37
NC_000007.12:g.116936429del	NCBI36
NG_016465.4:g.48356del , LRG_663:g.48356del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.270del	ENSP00000497673.2:p.Glu92LysfsTer15
ENST00000647978.2:c.*167del	ENSP00000497658.1:n.*167del
ENST00000649781.2:c.270del	ENSP00000497203.1:p.Glu92LysfsTer15
ENST00000649850.2:c.*167del	ENSP00000514457.1:n.*167del
ENST00000685018.2:c.270del	ENSP00000510194.2:p.Glu92LysfsTer15
ENST00000687278.2:c.270del	ENSP00000509593.2:p.Glu92LysfsTer15
ENST00000699585.1:c.270del	ENSP00000514456.1:p.Glu92LysfsTer15
ENST00000699596.1:c.270del	ENSP00000514465.1:p.Glu92LysfsTer15
ENST00000699597.1:c.270del	ENSP00000514466.1:p.Glu92LysfsTer15
ENST00000699598.1:c.270del	ENSP00000514467.1:p.Glu92LysfsTer15
ENST00000699599.1:c.270del	ENSP00000514468.1:p.Glu92LysfsTer15
ENST00000699600.1:c.270del	ENSP00000514469.1:p.Glu92LysfsTer15
ENST00000699601.1:c.270del	ENSP00000514470.1:p.Glu92LysfsTer15
ENST00000699602.1:c.270del	ENSP00000514471.1:p.Glu92LysfsTer15
ENST00000699604.1:c.*94del	ENSP00000514472.1:n.*94del
ENST00000699605.1:c.27del	ENSP00000514473.1:p.Glu11LysfsTer15
ENST00000446805.2:c.27del	ENSP00000417012.1:p.Glu11LysfsTer15
ENST00000003084.11:c.270del MANE Select	ENSP00000003084.6:p.Glu92LysfsTer15
ENST00000647639.1:n.354del
ENST00000647978.1:c.*167del	ENSP00000497658.1:n.*167del
ENST00000648260.1:c.270del	ENSP00000497957.1:p.Glu92LysfsTer15
ENST00000649406.1:c.270del	ENSP00000497965.1:p.Glu92LysfsTer15
ENST00000649781.1:c.270del	ENSP00000497203.1:p.Glu92LysfsTer15
ENST00000649850.1:n.427del
ENST00000673785.1:c.27del	ENSP00000501235.1:p.Glu11LysfsTer15
ENST00000003084.10:c.270del	ENSP00000003084.6:p.Glu92LysfsTer15
ENST00000426809.5:c.270del	ENSP00000389119.1:p.Glu92LysfsTer15
ENST00000446805.1:c.27del	ENSP00000417012.1:p.Glu11LysfsTer15
NM_000492.3:c.270del , LRG_663t1:c.270del	NP_000483.3:p.Glu92LysfsTer15
XM_011515751.1:c.360del	XP_011514053.1:p.Glu122LysfsTer15
XM_011515752.1:c.360del	XP_011514054.1:p.Glu122LysfsTer15
XM_011515753.1:c.27del	XP_011514055.1:p.Glu11LysfsTer15
XM_011515754.1:c.27del	XP_011514056.1:p.Glu11LysfsTer15
NM_000492.4:c.270del MANE Select	NP_000483.3:p.Glu92LysfsTer15