Canonical Allele Identifier: CA2573335089

Gene: CFTR CFTR-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117559509delinsAT , CM000669.2:g.117559509delinsAT	GRCh38
NC_000007.13:g.117199563delinsAT , CM000669.1:g.117199563delinsAT	GRCh37
NC_000007.12:g.116986799delinsAT	NCBI36
NG_016465.4:g.98726delinsAT , LRG_663:g.98726delinsAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.1438delinsAT (CFTR)	ENSP00000497673.2:p.Gly480MetfsTer2
ENST00000647978.2:c.*1152delinsAT (CFTR)	ENSP00000497658.1:n.*1152delinsAT
ENST00000649781.2:c.1255delinsAT (CFTR)	ENSP00000497203.1:p.Gly419MetfsTer2
ENST00000685018.2:c.1438delinsAT (CFTR)	ENSP00000510194.2:p.Gly480MetfsTer2
ENST00000687278.2:c.1438delinsAT (CFTR)	ENSP00000509593.2:p.Gly480MetfsTer2
ENST00000699585.1:c.1438delinsAT (CFTR)	ENSP00000514456.1:p.Gly480MetfsTer2
ENST00000699596.1:c.1438delinsAT (CFTR)	ENSP00000514465.1:p.Gly480MetfsTer2
ENST00000699597.1:c.1433delinsAT (CFTR)	ENSP00000514466.1:p.Gly478AspfsTer?
ENST00000699598.1:c.1438delinsAT (CFTR)	ENSP00000514467.1:p.Gly480MetfsTer2
ENST00000699599.1:c.1438delinsAT (CFTR)	ENSP00000514468.1:p.Gly480MetfsTer2
ENST00000699600.1:c.1438delinsAT (CFTR)	ENSP00000514469.1:p.Gly480MetfsTer2
ENST00000699601.1:c.1438delinsAT (CFTR)	ENSP00000514470.1:p.Gly480MetfsTer2
ENST00000699602.1:c.1438delinsAT (CFTR)	ENSP00000514471.1:p.Gly480MetfsTer2
ENST00000699604.1:c.*1262delinsAT (CFTR)	ENSP00000514472.1:n.*1262delinsAT
ENST00000699605.1:c.1012delinsAT (CFTR)	ENSP00000514473.1:p.Gly338MetfsTer2
ENST00000003084.11:c.1438delinsAT (CFTR) MANE Select	ENSP00000003084.6:p.Gly480MetfsTer2
ENST00000647978.1:c.*1152delinsAT (CFTR)	ENSP00000497658.1:n.*1152delinsAT
ENST00000648260.1:c.1255delinsAT (CFTR)	ENSP00000497957.1:p.Gly419MetfsTer2
ENST00000649406.1:c.1255delinsAT (CFTR)	ENSP00000497965.1:p.Gly419MetfsTer2
ENST00000649781.1:c.1255delinsAT (CFTR)	ENSP00000497203.1:p.Gly419MetfsTer2
ENST00000003084.10:c.1438delinsAT (CFTR)	ENSP00000003084.6:p.Gly480MetfsTer2
ENST00000426809.5:c.1348delinsAT (CFTR)	ENSP00000389119.1:p.Gly450MetfsTer2
NM_000492.3:c.1438delinsAT , LRG_663t1:c.1438delinsAT (CFTR)	NP_000483.3:p.Gly480MetfsTer2
XM_011515751.1:c.1528delinsAT (CFTR)	XP_011514053.1:p.Gly510MetfsTer2
XM_011515752.1:c.1528delinsAT (CFTR)	XP_011514054.1:p.Gly510MetfsTer2
XM_011515753.1:c.1195delinsAT (CFTR)	XP_011514055.1:p.Gly399MetfsTer2
XM_011515754.1:c.1195delinsAT (CFTR)	XP_011514056.1:p.Gly399MetfsTer2
NR_149084.1:n.221+1224delinsAT (CFTR-AS1)
NM_000492.4:c.1438delinsAT (CFTR) MANE Select	NP_000483.3:p.Gly480MetfsTer2