Canonical Allele Identifier: CA2579000029

Gene: CFTR CFTR-AS1

Linked Data

• gnomAD v4: 7-117548628-G-GTGTGTGTGTT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117548629_117548630insGTGTGTGTTT , CM000669.2:g.117548629_117548630insGTGTGTGTTT	GRCh38
NC_000007.13:g.117188683_117188684insGTGTGTGTTT , CM000669.1:g.117188683_117188684insGTGTGTGTTT	GRCh37
NC_000007.12:g.116975919_116975920insGTGTGTGTTT	NCBI36
NG_016465.4:g.87846_87847insGTGTGTGTTT , LRG_663:g.87846_87847insGTGTGTGTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1210-12_1210-11insGTGTGTGTTT (CFTR)	ENSP00000497673.2:n.1210-12_1210-11insGTGTGTGTTT
ENST00000647978.2:c.*1106+6521_*1106+6522insGTGTGTGTTT (CFTR)	ENSP00000497658.1:n.*1106+6521_*1106+6522insGTGTGTGTTT
ENST00000649781.2:c.1209+6521_1209+6522insGTGTGTGTTT (CFTR)	ENSP00000497203.1:n.1209+6521_1209+6522insGTGTGTGTTT
ENST00000685018.2:c.1210-12_1210-11insGTGTGTGTTT (CFTR)	ENSP00000510194.2:n.1210-12_1210-11insGTGTGTGTTT
ENST00000687278.2:c.1210-12_1210-11insGTGTGTGTTT (CFTR)	ENSP00000509593.2:n.1210-12_1210-11insGTGTGTGTTT
ENST00000699585.1:c.1210-12_1210-11insGTGTGTGTTT (CFTR)	ENSP00000514456.1:n.1210-12_1210-11insGTGTGTGTTT
ENST00000699596.1:c.1210-12_1210-11insGTGTGTGTTT (CFTR)	ENSP00000514465.1:n.1210-12_1210-11insGTGTGTGTTT
ENST00000699597.1:c.1210-12_1210-11insGTGTGTGTTT (CFTR)	ENSP00000514466.1:n.1210-12_1210-11insGTGTGTGTTT
ENST00000699598.1:c.1210-12_1210-11insGTGTGTGTTT (CFTR)	ENSP00000514467.1:n.1210-12_1210-11insGTGTGTGTTT
ENST00000699599.1:c.1210-12_1210-11insGTGTGTGTTT (CFTR)	ENSP00000514468.1:n.1210-12_1210-11insGTGTGTGTTT
ENST00000699600.1:c.1210-12_1210-11insGTGTGTGTTT (CFTR)	ENSP00000514469.1:n.1210-12_1210-11insGTGTGTGTTT
ENST00000699601.1:c.1210-12_1210-11insGTGTGTGTTT (CFTR)	ENSP00000514470.1:n.1210-12_1210-11insGTGTGTGTTT
ENST00000699602.1:c.1210-12_1210-11insGTGTGTGTTT (CFTR)	ENSP00000514471.1:n.1210-12_1210-11insGTGTGTGTTT
ENST00000699604.1:c.*1034-12_*1034-11insGTGTGTGTTT (CFTR)	ENSP00000514472.1:n.*1034-12_*1034-11insGTGTGTGTTT
ENST00000699605.1:c.966+6521_966+6522insGTGTGTGTTT (CFTR)	ENSP00000514473.1:n.966+6521_966+6522insGTGTGTGTTT
ENST00000003084.11:c.1210-12_1210-11insGTGTGTGTTT (CFTR) MANE Select	ENSP00000003084.6:n.1210-12_1210-11insGTGTGTGTTT
ENST00000647978.1:c.*1106+6521_*1106+6522insGTGTGTGTTT (CFTR)	ENSP00000497658.1:n.*1106+6521_*1106+6522insGTGTGTGTTT
ENST00000648260.1:c.1209+6521_1209+6522insGTGTGTGTTT (CFTR)	ENSP00000497957.1:n.1209+6521_1209+6522insGTGTGTGTTT
ENST00000649406.1:c.1209+6521_1209+6522insGTGTGTGTTT (CFTR)	ENSP00000497965.1:n.1209+6521_1209+6522insGTGTGTGTTT
ENST00000649781.1:c.1209+6521_1209+6522insGTGTGTGTTT (CFTR)	ENSP00000497203.1:n.1209+6521_1209+6522insGTGTGTGTTT
ENST00000673785.1:c.967-12_967-11insGTGTGTGTTT (CFTR)	ENSP00000501235.1:n.967-12_967-11insGTGTGTGTTT
ENST00000003084.10:c.1210-12_1210-11insGTGTGTGTTT (CFTR)	ENSP00000003084.6:n.1210-12_1210-11insGTGTGTGTTT
ENST00000426809.5:c.1120-12_1120-11insGTGTGTGTTT (CFTR)	ENSP00000389119.1:n.1120-12_1120-11insGTGTGTGTTT
NM_000492.3:c.1210-12_1210-11insGTGTGTGTTT , LRG_663t1:c.1210-12_1210-11insGTGTGTGTTT (CFTR)	NP_000483.3:n.1210-12_1210-11insGTGTGTGTTT
XM_011515751.1:c.1300-12_1300-11insGTGTGTGTTT (CFTR)	XP_011514053.1:n.1300-12_1300-11insGTGTGTGTTT
XM_011515752.1:c.1300-12_1300-11insGTGTGTGTTT (CFTR)	XP_011514054.1:n.1300-12_1300-11insGTGTGTGTTT
XM_011515753.1:c.967-12_967-11insGTGTGTGTTT (CFTR)	XP_011514055.1:n.967-12_967-11insGTGTGTGTTT
XM_011515754.1:c.967-12_967-11insGTGTGTGTTT (CFTR)	XP_011514056.1:n.967-12_967-11insGTGTGTGTTT
NR_149084.1:n.222-6090_222-6089insAACACACACA (CFTR-AS1)
NM_000492.4:c.1210-12_1210-11insGTGTGTGTTT (CFTR) MANE Select	NP_000483.3:n.1210-12_1210-11insGTGTGTGTTT