Canonical Allele Identifier: CA2740097516

Gene: CFTR CFTR-AS1

Linked Data

• ClinVar Variation Id: 3063878
• ClinVar RCV Id: RCV003988466

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117548791_117548796delinsGCT , CM000669.2:g.117548791_117548796delinsGCT	GRCh38
NC_000007.13:g.117188845_117188850delinsGCT , CM000669.1:g.117188845_117188850delinsGCT	GRCh37
NC_000007.12:g.116976081_116976086delinsGCT	NCBI36
NG_016465.4:g.88008_88013delinsGCT , LRG_663:g.88008_88013delinsGCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.1360_1365delinsGCT (CFTR)	ENSP00000497673.2:p.Leu454del
ENST00000647978.2:c.*1106+6683_*1106+6688delinsGCT (CFTR)	ENSP00000497658.1:n.*1106+6683_*1106+6688...
ENST00000649781.2:c.1209+6683_1209+6688delinsGCT (CFTR)	ENSP00000497203.1:n.1209+6683_1209+6688de...
ENST00000685018.2:c.1360_1365delinsGCT (CFTR)	ENSP00000510194.2:p.Leu454del
ENST00000687278.2:c.1360_1365delinsGCT (CFTR)	ENSP00000509593.2:p.Leu454del
ENST00000699585.1:c.1360_1365delinsGCT (CFTR)	ENSP00000514456.1:p.Leu454del
ENST00000699596.1:c.1360_1365delinsGCT (CFTR)	ENSP00000514465.1:p.Leu454del
ENST00000699597.1:c.1360_1365delinsGCT (CFTR)	ENSP00000514466.1:p.Leu454del
ENST00000699598.1:c.1360_1365delinsGCT (CFTR)	ENSP00000514467.1:p.Leu454del
ENST00000699599.1:c.1360_1365delinsGCT (CFTR)	ENSP00000514468.1:p.Leu454del
ENST00000699600.1:c.1360_1365delinsGCT (CFTR)	ENSP00000514469.1:p.Leu454del
ENST00000699601.1:c.1360_1365delinsGCT (CFTR)	ENSP00000514470.1:p.Leu454del
ENST00000699602.1:c.1360_1365delinsGCT (CFTR)	ENSP00000514471.1:p.Leu454del
ENST00000699604.1:c.*1184_*1189delinsGCT (CFTR)	ENSP00000514472.1:n.*1184_*1189delinsGCT
ENST00000699605.1:c.966+6683_966+6688delinsGCT (CFTR)	ENSP00000514473.1:n.966+6683_966+6688deli...
ENST00000003084.11:c.1360_1365delinsGCT (CFTR) MANE Select	ENSP00000003084.6:p.Leu454del
ENST00000647978.1:c.*1106+6683_*1106+6688delinsGCT (CFTR)	ENSP00000497658.1:n.*1106+6683_*1106+6688...
ENST00000648260.1:c.1209+6683_1209+6688delinsGCT (CFTR)	ENSP00000497957.1:n.1209+6683_1209+6688de...
ENST00000649406.1:c.1209+6683_1209+6688delinsGCT (CFTR)	ENSP00000497965.1:n.1209+6683_1209+6688de...
ENST00000649781.1:c.1209+6683_1209+6688delinsGCT (CFTR)	ENSP00000497203.1:n.1209+6683_1209+6688de...
ENST00000003084.10:c.1360_1365delinsGCT (CFTR)	ENSP00000003084.6:p.Leu454del
ENST00000426809.5:c.1270_1275delinsGCT (CFTR)	ENSP00000389119.1:p.Leu424del
NM_000492.3:c.1360_1365delinsGCT , LRG_663t1:c.1360_1365delinsGCT (CFTR)	NP_000483.3:p.Leu454del
XM_011515751.1:c.1450_1455delinsGCT (CFTR)	XP_011514053.1:p.Leu484del
XM_011515752.1:c.1450_1455delinsGCT (CFTR)	XP_011514054.1:p.Leu484del
XM_011515753.1:c.1117_1122delinsGCT (CFTR)	XP_011514055.1:p.Leu373del
XM_011515754.1:c.1117_1122delinsGCT (CFTR)	XP_011514056.1:p.Leu373del
NR_149084.1:n.222-6257_222-6252delinsAGC (CFTR-AS1)
NM_000492.4:c.1360_1365delinsGCT (CFTR) MANE Select	NP_000483.3:p.Leu454del