Canonical Allele Identifier: CA2580076322

Gene: CFTR CFTR-AS1

Linked Data

• ClinVar Variation Id: 1725285
• ClinVar RCV Id: RCV002308344

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117559618_117559621del , CM000669.2:g.117559618_117559621del	GRCh38
NC_000007.13:g.117199672_117199675del , CM000669.1:g.117199672_117199675del	GRCh37
NC_000007.12:g.116986908_116986911del	NCBI36
NG_016465.4:g.98835_98838del , LRG_663:g.98835_98838del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1547_1550del (CFTR)	ENSP00000497673.2:p.Arg516ThrfsTer10
ENST00000647978.2:c.*1261_*1264del (CFTR)	ENSP00000497658.1:n.*1261_*1264del
ENST00000649781.2:c.1364_1367del (CFTR)	ENSP00000497203.1:p.Arg455ThrfsTer10
ENST00000685018.2:c.1547_1550del (CFTR)	ENSP00000510194.2:p.Arg516ThrfsTer10
ENST00000687278.2:c.1547_1550del (CFTR)	ENSP00000509593.2:p.Arg516ThrfsTer10
ENST00000699585.1:c.1547_1550del (CFTR)	ENSP00000514456.1:p.Arg516ThrfsTer10
ENST00000699596.1:c.1547_1550del (CFTR)	ENSP00000514465.1:p.Arg516ThrfsTer10
ENST00000699597.1:c.*105_*108del (CFTR)	ENSP00000514466.1:n.*105_*108del
ENST00000699598.1:c.1547_1550del (CFTR)	ENSP00000514467.1:p.Arg516ThrfsTer10
ENST00000699599.1:c.1547_1550del (CFTR)	ENSP00000514468.1:p.Arg516ThrfsTer10
ENST00000699600.1:c.1547_1550del (CFTR)	ENSP00000514469.1:p.Arg516ThrfsTer10
ENST00000699601.1:c.1547_1550del (CFTR)	ENSP00000514470.1:p.Arg516ThrfsTer10
ENST00000699602.1:c.1547_1550del (CFTR)	ENSP00000514471.1:p.Arg516ThrfsTer10
ENST00000699604.1:c.*1371_*1374del (CFTR)	ENSP00000514472.1:n.*1371_*1374del
ENST00000699605.1:c.1121_1124del (CFTR)	ENSP00000514473.1:p.Arg374ThrfsTer10
ENST00000003084.11:c.1547_1550del (CFTR) MANE Select	ENSP00000003084.6:p.Arg516ThrfsTer10
ENST00000647978.1:c.*1261_*1264del (CFTR)	ENSP00000497658.1:n.*1261_*1264del
ENST00000648260.1:c.1364_1367del (CFTR)	ENSP00000497957.1:p.Arg455ThrfsTer10
ENST00000649406.1:c.1364_1367del (CFTR)	ENSP00000497965.1:p.Arg455ThrfsTer10
ENST00000649781.1:c.1364_1367del (CFTR)	ENSP00000497203.1:p.Arg455ThrfsTer10
ENST00000003084.10:c.1547_1550del (CFTR)	ENSP00000003084.6:p.Arg516ThrfsTer10
ENST00000426809.5:c.1457_1460del (CFTR)	ENSP00000389119.1:p.Arg486ThrfsTer10
NM_000492.3:c.1547_1550del , LRG_663t1:c.1547_1550del (CFTR)	NP_000483.3:p.Arg516ThrfsTer10
XM_011515751.1:c.1637_1640del (CFTR)	XP_011514053.1:p.Arg546ThrfsTer10
XM_011515752.1:c.1637_1640del (CFTR)	XP_011514054.1:p.Arg546ThrfsTer10
XM_011515753.1:c.1304_1307del (CFTR)	XP_011514055.1:p.Arg435ThrfsTer10
XM_011515754.1:c.1304_1307del (CFTR)	XP_011514056.1:p.Arg435ThrfsTer10
NR_149084.1:n.221+1115_221+1118del (CFTR-AS1)
NM_000492.4:c.1547_1550del (CFTR) MANE Select	NP_000483.3:p.Arg516ThrfsTer10